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Adult Congenital Heart Disease pericardial constraint, pressure rises rapidly until maxi- to those of fixed constriction, although pericardial effusion is mum volume is achieved; pressure then remains constant, more likely in patients with transient constrictive pericarditis. causing the plateau phase of the square root sign. A more specific finding is ventricular interdependence during Management simultaneous right and left ventricular systolic pressure Treatment of transient constrictive pericarditis is the same measurement. During inspiration, right ventricular inflow as for acute pericarditis. Anti-inflammatory therapy for 2 to is enhanced, and right ventricular systolic pressure rises; 3 months is reasonable in hemodynamically stable patients however, these changes occur with a concomitant decrease before recommending surgical pericardiectom)'. Diuretics in left ventricular filling and reduction in left ventricular improve symptoms by reducing volume overload and cardiac stroke volume and systolic pressure (Figure 49). The con filling pressures but may have only mrtdest benefit. Response verse is seen during expiration. to therapy is monitored clinically. echocardiographically. and. Pericardial thickening and impaired distensibility may if initial inflammatory markers are elevated. serologicallli occur without librosis or calcitication in the setting of acute or Patients with chronic pericardial constriction should be subacute inflammation. In these patients, constriction may be referred fbr surgical pericardial stripping (pericardiectomy transient and resolve spontaneously. Patients with transient performed via median sternotomy). In advanced cases. ade constrictive pericarditis present most commonly with symp quate resection of the pericardium may be difficult. leading to toms olright sided heart failure, although fever and chest pain incomplete resolution of symptoms. Diuretic therapy may be may indicate active inflammation. Most cases are idiopathic; useful to relieve congestive symptoms in patients who are other causes include recent cardiac surgery. acute pericarditis, not deemed surgical candidates or in whom stripping r'r'as autoinlmune disease, and chemotherapy. Systemic inflamma incomplete. tory markers (erythrocyte sedimentation rate and CRP) may f,EY POII'TS be elevated in transient constriction but are generally normal with fixed constriction. Echocardiographic features are similar . Constrictive pericarditis is characterized by pericardial thickening, fibrosis, and sometimes calcification that impair diastolic filling and limit total cardiac volume. o Transthoracic echocardiography is the initial diagnostic test for evaluating constrictive pericarditis; however, additional imaging may be required to diflerentiate con lnspiration + strictive pericarditis from restrictive cardiomyopathy. . In patients with constrictive pericarditis, anti inflammatory therapy for 2 to 3 months is reasonable before consider- ing surgical pericardiectomy. I

pericardial constraint, pressure rises rapidly until maxi- to those of fixed constriction, although pericardial effusion is mum volume is achieved; pressure then remains constant, more likely in patients with transient constrictive pericarditis. causing the plateau phase of the square root sign. A more specific finding is ventricular interdependence during Management simultaneous right and left ventricular systolic pressure Treatment of transient constrictive pericarditis is the same measurement. During inspiration, right ventricular inflow as for acute pericarditis. Anti-inflammatory therapy for 2 to is enhanced, and right ventricular systolic pressure rises; 3 months is reasonable in hemodynamically stable patients however, these changes occur with a concomitant decrease before recommending surgical pericardiectom)'. Diuretics in left ventricular filling and reduction in left ventricular improve symptoms by reducing volume overload and cardiac stroke volume and systolic pressure (Figure 49). The con filling pressures but may have only mrtdest benefit. Response verse is seen during expiration. to therapy is monitored clinically. echocardiographically. and. Pericardial thickening and impaired distensibility may if initial inflammatory markers are elevated. serologicallli occur without librosis or calcitication in the setting of acute or Patients with chronic pericardial constriction should be subacute inflammation. In these patients, constriction may be referred fbr surgical pericardial stripping (pericardiectomy transient and resolve spontaneously. Patients with transient performed via median sternotomy). In advanced cases. ade constrictive pericarditis present most commonly with symp quate resection of the pericardium may be difficult. leading to toms olright sided heart failure, although fever and chest pain incomplete resolution of symptoms. Diuretic therapy may be may indicate active inflammation. Most cases are idiopathic; useful to relieve congestive symptoms in patients who are other causes include recent cardiac surgery. acute pericarditis, not deemed surgical candidates or in whom stripping r'r'as autoinlmune disease, and chemotherapy. Systemic inflamma incomplete. tory markers (erythrocyte sedimentation rate and CRP) may f,EY POII'TS be elevated in transient constriction but are generally normal with fixed constriction. Echocardiographic features are similar . Constrictive pericarditis is characterized by pericardial thickening, fibrosis, and sometimes calcification that impair diastolic filling and limit total cardiac volume. o Transthoracic echocardiography is the initial diagnostic test for evaluating constrictive pericarditis; however, additional imaging may be required to diflerentiate con lnspiration + strictive pericarditis from restrictive cardiomyopathy. . In patients with constrictive pericarditis, anti inflammatory therapy for 2 to 3 months is reasonable before consider- ing surgical pericardiectomy. I Adult Congenital Heart Disease lnspintion + lntroduction Medical and surgical advances have resulted in more adults than children with congenital heart disease (CHD) in North America. Cardiovascular residua are common in patients with previous intervention for congenital cardiac lesions, under scoring the importance of periodic follow up by a team ide ally consisting of the internist and a cardiologist trained in adult CHD. Specialized care is critical fbr patients born with FIGU RE 4 9. Ihe hemodynamics of constrictive pericarditis (top panel) versus complex and cyanotic congenital cardiac disease, sympto- restrictive cardiomyopathy (boftom panel\. ln constrictive pericarditis, there is significant enhancement of ventricular interdependence leading to discordance of matic patients, and patients who desire pregnancy. The lre the left ventricular and right ventricular pressures during respiration. Arrows quency offollow up depends on the underlying disorder and indicate onset of inspiration and subsequent respective changes in left ventricular patient's status. and right ventricular systolic pressures. ln the top panel, note the diastolic dip and Women with CHD should be offered reproductile health plateau (arowhead), or "square root sign," characteristic of constrictive pericarditis. counseling. The use of contraceptive agents in women with ln restrictive cardiomyopathy, there is evidence of early rapid ventricular filling, but the ventricular pressures concordantly rise and fall during respiration. LV= left CHD must be balanced against the risks of pregnancy; how ventricle; RV = right ventricle. ever, there are no safety data on the various contraceptives to

Adult Congenital Heart Disease lnspintion + lntroduction Medical and surgical advances have resulted in more adults than children with congenital heart disease (CHD) in North America. Cardiovascular residua are common in patients with previous intervention for congenital cardiac lesions, under scoring the importance of periodic follow up by a team ide ally consisting of the internist and a cardiologist trained in adult CHD. Specialized care is critical fbr patients born with FIGU RE 4 9. Ihe hemodynamics of constrictive pericarditis (top panel) versus complex and cyanotic congenital cardiac disease, sympto- restrictive cardiomyopathy (boftom panel\. ln constrictive pericarditis, there is significant enhancement of ventricular interdependence leading to discordance of matic patients, and patients who desire pregnancy. The lre the left ventricular and right ventricular pressures during respiration. Arrows quency offollow up depends on the underlying disorder and indicate onset of inspiration and subsequent respective changes in left ventricular patient's status. and right ventricular systolic pressures. ln the top panel, note the diastolic dip and Women with CHD should be offered reproductile health plateau (arowhead), or "square root sign," characteristic of constrictive pericarditis. counseling. The use of contraceptive agents in women with ln restrictive cardiomyopathy, there is evidence of early rapid ventricular filling, but the ventricular pressures concordantly rise and fall during respiration. LV= left CHD must be balanced against the risks of pregnancy; how ventricle; RV = right ventricle. ever, there are no safety data on the various contraceptives to 90

Adult Congenital Heart Disease help guide choice. l.strogen containing contraceptives may atrial flbrillation of0.33'/, peryear). Data regarding the benefit pose a risk in women with CHD who are already at high risk of PFO closure in patients older tharr 60 years are lacking. For lbr venous thromboenrbolic diserse, including patients with these patients and fbr younger patients who do not select PFO cyanosis, Fontan physiologr, mechanical valves, prior throm closure, antiplatelet therapy or anticoagulation is reasonable. botic events, and pulmonary arterial hypertension. In preg Limited data support PFO closure in an ef'fort to decrease the nant patients, anticoagulation is associated witl-r r-naternal and frequency of migraine. No treatment or fbilow-up is needed in fetal risks. Prepregnancy counseling is recommended lbr all asymptomatic patients with an incidentatly detected PFO. wonlen requiring long term anticoagulation to enable them to Platypnea-orthodeoxia syndrome is a rare acquired disor- make infbrn-red decisions and to understand the risks (see der characterized by cyanosis and dyspnea in the upright posi Pregnancy and Cardiovascular Disease). tion resulting from right to lelt shunting across a PFO or, less Adults with CHD are at risk lbr hepatitis C, and screening commonly. through an atrial septal defect (ASD) or pulmonary is recornnrended. Hepatitis B vaccination is recontmended lbr arteriovenous fistulae. A transient increase in right atrial pres- all nonimmune patients at high risk for infection, includir.rg sure or change in right atrial anatomy resulting from myocar- patients with reprrired CHD. dial inlarction, pulmonary embolisnr, tricuspid regurgitation, Anxiety ar-rd depression are prevalent but underrecog or acute right sided heart failure n.ray precipitate this syn nized in patients with CHD. and screening tbr these mood drome. Device closure of the PFO may relieve symptoms and disorders should be a routine aspect ol care. improve oxygen saturation. Atrial septal aneurysm is characterized by mobile, redun dant atrial septal tissue that is often associated with a PFO. Patent Foramen Ovale Atrial septal aneurysm with a PFO reportedly increases the 'l'l-re firramen ovale is a passage in the superior portion ol the risk lbr stroke compared with PFO alone. Results of a ran- lbssa ovalis that allows oxygenated placental blood to transfer domized, open label trial demonstrated that patients present- to the fetal circulation. It norr.nally closes within the lirst ing with en.rbolic stroke of undetermined source in the setting rteeks ol life; however. ir-r 25',1, to 30',1, of the population, it of an atrial septal aneurysm with PFO had a lower rate of renrains patent (Figure 50). A patent fbramen ovale (PFO) is stroke recurrence when treated with PFO closure combined usually tbund incidentally on echocardiography or during with antiplatelet therapy than with antiplatelet therapy alone. evaluation fbr a cerebrovascular event. Rarely, surgical excision and defect closure is considered based A PFO is typically diagnosed by transesopl.rageal echocar on anatomic features. diography (TEE). less commclnly by transthoracic echocardi IEY POIlITS ography (TTE). Right to-left shunting of blood across the PFO o No treatment or follow-up is needed in asymptomatic HVC is demonstrated by color flow Doppler imagir-rg or by intrave nously ir.rjecting agitated saline and identifying its subsequent patients with a patent foramen ovale. transfbr througl.r the PFO from the right atriur.n to the left . In patients younger than 60 years with a patent foramen atriunr. ovale (PFO) and embolic stroke of undetermined source, Patients with a PFO and embolic stroke ol undetermined PFO closure is recommended following a discussion of source should be treated with antiplatelet therapy. In patients potential benefits and risks. younger than 60 years with a PFO and embolic irppearing infarct and no other mechanism of stroke identified. current guidelines recommend PFO ckrsure following a discussion of Atrial Septal Defect potential benefits (absolute recurrent stroke risk reduction of Pathophysiology and Genetics 3.4')(, at 5 years) and risks (periprocedural conrplication rate An ASD is a defect in the atrial septum resulting in a left to- oI' :1.9"1, and increased absolute rate of non periprocedural right shunt with eventual right-sided cardiac chamber dilata tion in most patients. ASDs are generally classified by their krcation (Figure 51). Ostium secundum defects, the most

help guide choice. l.strogen containing contraceptives may atrial flbrillation of0.33'/, peryear). Data regarding the benefit pose a risk in women with CHD who are already at high risk of PFO closure in patients older tharr 60 years are lacking. For lbr venous thromboenrbolic diserse, including patients with these patients and fbr younger patients who do not select PFO cyanosis, Fontan physiologr, mechanical valves, prior throm closure, antiplatelet therapy or anticoagulation is reasonable. botic events, and pulmonary arterial hypertension. In preg Limited data support PFO closure in an ef'fort to decrease the nant patients, anticoagulation is associated witl-r r-naternal and frequency of migraine. No treatment or fbilow-up is needed in fetal risks. Prepregnancy counseling is recommended lbr all asymptomatic patients with an incidentatly detected PFO. wonlen requiring long term anticoagulation to enable them to Platypnea-orthodeoxia syndrome is a rare acquired disor- make infbrn-red decisions and to understand the risks (see der characterized by cyanosis and dyspnea in the upright posi Pregnancy and Cardiovascular Disease). tion resulting from right to lelt shunting across a PFO or, less Adults with CHD are at risk lbr hepatitis C, and screening commonly. through an atrial septal defect (ASD) or pulmonary is recornnrended. Hepatitis B vaccination is recontmended lbr arteriovenous fistulae. A transient increase in right atrial pres- all nonimmune patients at high risk for infection, includir.rg sure or change in right atrial anatomy resulting from myocar- patients with reprrired CHD. dial inlarction, pulmonary embolisnr, tricuspid regurgitation, Anxiety ar-rd depression are prevalent but underrecog or acute right sided heart failure n.ray precipitate this syn nized in patients with CHD. and screening tbr these mood drome. Device closure of the PFO may relieve symptoms and disorders should be a routine aspect ol care. improve oxygen saturation. Atrial septal aneurysm is characterized by mobile, redun dant atrial septal tissue that is often associated with a PFO. Patent Foramen Ovale Atrial septal aneurysm with a PFO reportedly increases the 'l'l-re firramen ovale is a passage in the superior portion ol the risk lbr stroke compared with PFO alone. Results of a ran- lbssa ovalis that allows oxygenated placental blood to transfer domized, open label trial demonstrated that patients present- to the fetal circulation. It norr.nally closes within the lirst ing with en.rbolic stroke of undetermined source in the setting rteeks ol life; however. ir-r 25',1, to 30',1, of the population, it of an atrial septal aneurysm with PFO had a lower rate of renrains patent (Figure 50). A patent fbramen ovale (PFO) is stroke recurrence when treated with PFO closure combined usually tbund incidentally on echocardiography or during with antiplatelet therapy than with antiplatelet therapy alone. evaluation fbr a cerebrovascular event. Rarely, surgical excision and defect closure is considered based A PFO is typically diagnosed by transesopl.rageal echocar on anatomic features. diography (TEE). less commclnly by transthoracic echocardi IEY POIlITS ography (TTE). Right to-left shunting of blood across the PFO o No treatment or follow-up is needed in asymptomatic HVC is demonstrated by color flow Doppler imagir-rg or by intrave nously ir.rjecting agitated saline and identifying its subsequent patients with a patent foramen ovale. transfbr througl.r the PFO from the right atriur.n to the left . In patients younger than 60 years with a patent foramen atriunr. ovale (PFO) and embolic stroke of undetermined source, Patients with a PFO and embolic stroke ol undetermined PFO closure is recommended following a discussion of source should be treated with antiplatelet therapy. In patients potential benefits and risks. younger than 60 years with a PFO and embolic irppearing infarct and no other mechanism of stroke identified. current guidelines recommend PFO ckrsure following a discussion of Atrial Septal Defect potential benefits (absolute recurrent stroke risk reduction of Pathophysiology and Genetics 3.4')(, at 5 years) and risks (periprocedural conrplication rate An ASD is a defect in the atrial septum resulting in a left to- oI' :1.9"1, and increased absolute rate of non periprocedural right shunt with eventual right-sided cardiac chamber dilata tion in most patients. ASDs are generally classified by their krcation (Figure 51). Ostium secundum defects, the most + LA LA common type of ASD (75'1, of cases), are typically located in the mid portion of the atrial septum and are usually isolated RA anomalies. Located in the lowest portion of the atrial septum, RA ostium primum defects (15,1,-20"/. of ASDs) are a component of endocardial cushion defects. Associated lesions include LV LV mitral valve, ventricular septum, and subaortic anomalies. RV Sinus venosus defects (5'u, 10'/,, o1'ASDs) are located near the F I G UR E 5 0. Patent foramen ovale. The arrows demonstrate the mechanism of superior vena cava or, rarely, the inferior vena cava; anoma- right to left shunting through the patent foramen ovale. LA- lelt atrium; LV= left lous pulmonary venous connection (typically involving the ventricle; RA = right atrium; RV = right ventricle. right upper pulmonary vein) occurs in essentially all patients Redrawn from origina supplled counesy 0i Dr. Wi llam D tdwards, Department 0f Labordtory lVedicine afd Pathology, [,4ayo Cl.i., Roihester, [,4N with this defect. A coronary sinus ASD (<1'l. of cases) is a

+ LA LA common type of ASD (75'1, of cases), are typically located in the mid portion of the atrial septum and are usually isolated RA anomalies. Located in the lowest portion of the atrial septum, RA ostium primum defects (15,1,-20"/. of ASDs) are a component of endocardial cushion defects. Associated lesions include LV LV mitral valve, ventricular septum, and subaortic anomalies. RV Sinus venosus defects (5'u, 10'/,, o1'ASDs) are located near the F I G UR E 5 0. Patent foramen ovale. The arrows demonstrate the mechanism of superior vena cava or, rarely, the inferior vena cava; anoma- right to left shunting through the patent foramen ovale. LA- lelt atrium; LV= left lous pulmonary venous connection (typically involving the ventricle; RA = right atrium; RV = right ventricle. right upper pulmonary vein) occurs in essentially all patients Redrawn from origina supplled counesy 0i Dr. Wi llam D tdwards, Department 0f Labordtory lVedicine afd Pathology, [,4ayo Cl.i., Roihester, [,4N with this defect. A coronary sinus ASD (<1'l. of cases) is a 91

Adult Congenital Heart Disease right ventricular systolic pressure elevation. Agitated saline contrast injection in a peripheral vein during TTE may help identify an atrial level shunt. Sinus venosus and coronary sinus ASDs are less readily diagnosed by TTE in adults and often require other imaging modalities, such as TEE, cardiac magnetic resonance (CMR) imaging, or CT. CMR imaging and CT are rarely used as the primary imaging modality when an ASD is suspected but can identify anomalous pulmonary veins and quantify right ventricular volume and ejection fraction. Cardiac catheterization is the only method for accurately calculating pulmonary-to systemic blood flow ratio (Qp:Qs). It may be recommended in patients with an ASD and PH when ASD closure is being considered.

right ventricular systolic pressure elevation. Agitated saline contrast injection in a peripheral vein during TTE may help identify an atrial level shunt. Sinus venosus and coronary sinus ASDs are less readily diagnosed by TTE in adults and often require other imaging modalities, such as TEE, cardiac magnetic resonance (CMR) imaging, or CT. CMR imaging and CT are rarely used as the primary imaging modality when an ASD is suspected but can identify anomalous pulmonary veins and quantify right ventricular volume and ejection fraction. Cardiac catheterization is the only method for accurately calculating pulmonary-to systemic blood flow ratio (Qp:Qs). It may be recommended in patients with an ASD and PH when ASD closure is being considered. Treatment F I G U R E 5 1 . Positions of various atrial septal defeds viewed from the right side In asymptomatic patients with a small ASD and no right heart of the heart. (1) Ostium secundum; (2) ostium primum; (3) superior sinus venosus; enlargement, periodic clinical monitoring and echocardio (4) i nferior si nus venosus. The coronary si n us atrial septa I defect is not visua I ized i n graphic imaging are recommended. The main indications for this image; it is a communication between the coronary sinus and left atrium. PI= pulm0nary trunk; RV= rightventricle. ASD closure include right-sided cardiac chamber enlargement and dyspnea. Some experts recommend closure for platypnea Redrawn from original supplied courtesy of Dr. William D. Edwards, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochesler, MN. orthodeoxia syndrome. Percutaneous device closure is indicated for patients with communication betvveen the left atrium and the coronary an isolated ostium secundum ASD causing functional and sinus. These defects are commonly associated with a persis hemodynamic consequences. It is a reasonable option for tent left sided superior vena cava or complex CHD. asymptomatic patients with shunt related hemodynamic con ASDs are rarely associated with genetic syndromes. sequences in the absence of severe PH. Surgical ASD closure is Familial ostium secundum ASDs may be autosomal dominant indicated for nonsecundum ASDs, large secundum ASDs, or linked to chromosome 5. Congenital heart defects are rela unfavorable anatomy for device closure, and coexistent cardio tively common in patients with Down syndrome; the most vascular disease that requires operative intervention, such as frequent abnormalities reported are atrioventricular septal coronary artery disease, partial anomalous pulmonary venous defects, including ostium primum ASD. return, or tricuspid regurgitation. Patients with an ASD and PH require specialized care; Clinical Presentation ASD closure may be considered for persistent left-to right ASDs may be suspected in patients with unexplained right shunting without fixed PH. Medical therapy targeted at PH heart enlargement or atrial arrhythmias. Atrial fibrillation is a should also be considered. Patients with an isolated anomalous pulmonary venous common finding, particularly in older patients with an ASD. Atrial fibrillation risk decreases but does not normalize after connection may present with clinical findings and TTE fea ASD closure. ASD size and associated defects influence the age tures similar to an ASD. Surgical redirection of the pulmonary of presentation. Symptoms include fatigue, exertional dyspnea, vein is the only feasible treatment and requires surgical exper arrhlthmias, and paradoxical embolism. Rarely, patients with tise in CHD. pulmonary hypertension (PH) are found to have isolated ASDs. Activity restriction is not required for patients lvith small Examination findings in patients with an ASD include a ASDs. Large left-to-right shunts result in self-limited exercise parasternal impulse, fixed splitting of the Sr, and a pulmonary restriction. Patients with severe PH are advised to avoid iso outflow murrnur. A diastolic flow rumble across the tricuspid metric or competitive exercise. valve can occur with a large left to right shunt. Pregnancy is generally well tolerated in patients with an ASD in the absence of PH. The risk for CHD transmission with

Treatment F I G U R E 5 1 . Positions of various atrial septal defeds viewed from the right side In asymptomatic patients with a small ASD and no right heart of the heart. (1) Ostium secundum; (2) ostium primum; (3) superior sinus venosus; enlargement, periodic clinical monitoring and echocardio (4) i nferior si nus venosus. The coronary si n us atrial septa I defect is not visua I ized i n graphic imaging are recommended. The main indications for this image; it is a communication between the coronary sinus and left atrium. PI= pulm0nary trunk; RV= rightventricle. ASD closure include right-sided cardiac chamber enlargement and dyspnea. Some experts recommend closure for platypnea Redrawn from original supplied courtesy of Dr. William D. Edwards, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochesler, MN. orthodeoxia syndrome. Percutaneous device closure is indicated for patients with communication betvveen the left atrium and the coronary an isolated ostium secundum ASD causing functional and sinus. These defects are commonly associated with a persis hemodynamic consequences. It is a reasonable option for tent left sided superior vena cava or complex CHD. asymptomatic patients with shunt related hemodynamic con ASDs are rarely associated with genetic syndromes. sequences in the absence of severe PH. Surgical ASD closure is Familial ostium secundum ASDs may be autosomal dominant indicated for nonsecundum ASDs, large secundum ASDs, or linked to chromosome 5. Congenital heart defects are rela unfavorable anatomy for device closure, and coexistent cardio tively common in patients with Down syndrome; the most vascular disease that requires operative intervention, such as frequent abnormalities reported are atrioventricular septal coronary artery disease, partial anomalous pulmonary venous defects, including ostium primum ASD. return, or tricuspid regurgitation. Patients with an ASD and PH require specialized care; Clinical Presentation ASD closure may be considered for persistent left-to right ASDs may be suspected in patients with unexplained right shunting without fixed PH. Medical therapy targeted at PH heart enlargement or atrial arrhythmias. Atrial fibrillation is a should also be considered. Patients with an isolated anomalous pulmonary venous common finding, particularly in older patients with an ASD. Atrial fibrillation risk decreases but does not normalize after connection may present with clinical findings and TTE fea ASD closure. ASD size and associated defects influence the age tures similar to an ASD. Surgical redirection of the pulmonary of presentation. Symptoms include fatigue, exertional dyspnea, vein is the only feasible treatment and requires surgical exper arrhlthmias, and paradoxical embolism. Rarely, patients with tise in CHD. pulmonary hypertension (PH) are found to have isolated ASDs. Activity restriction is not required for patients lvith small Examination findings in patients with an ASD include a ASDs. Large left-to-right shunts result in self-limited exercise parasternal impulse, fixed splitting of the Sr, and a pulmonary restriction. Patients with severe PH are advised to avoid iso outflow murrnur. A diastolic flow rumble across the tricuspid metric or competitive exercise. valve can occur with a large left to right shunt. Pregnancy is generally well tolerated in patients with an ASD in the absence of PH. The risk for CHD transmission with Diagnostic Evaluation a sporadic ASD is estimated to be around 5')6. Other genetic syndromes have variable inheritance, and genetic counseling ECG and radiographic findings in patients with an ASD are is suggested if a syndrome is suspected. presented in Table 34. TTE is the preferred imaging modality for identification of ostium secundum and primum ASDs. TTE also measures asso- Follow-up After Atrial Septal Defect Closure ciated features, such as right-sided cardiac chamber enlarge- Follow up after surgical or percutaneous ASD closure includes ment, tricuspid regurgitation related to annular dilatation, and TTE and clinical assessment within the first year after closure

Diagnostic Evaluation a sporadic ASD is estimated to be around 5')6. Other genetic syndromes have variable inheritance, and genetic counseling ECG and radiographic findings in patients with an ASD are is suggested if a syndrome is suspected. presented in Table 34. TTE is the preferred imaging modality for identification of ostium secundum and primum ASDs. TTE also measures asso- Follow-up After Atrial Septal Defect Closure ciated features, such as right-sided cardiac chamber enlarge- Follow up after surgical or percutaneous ASD closure includes ment, tricuspid regurgitation related to annular dilatation, and TTE and clinical assessment within the first year after closure 92

Adult Congenital Heart Disease TABLE 34. lmaging Findings and Late Complications in Adult Congenital Heart Disease Lesion ECG and CXR Findings Late Complications Patent foramen ovale Normal Paradoxical embolism, platypnea-orthodeoxia syndrome Ostium secundum ASD ECG: lncomplete RBBB, RA enlargement, right axis Right heart enlargement, AF, PH (rare) deviation Post-repair: residual shunt (rare) CXR: Right heart enlargement, prominent pulmonary artery, increased pulmonary vascularity Ostium primum ASD ECG: Left axis deviation, first-degree Right heart enlargement, AF, mitral regurgitation atrioventricular block (from mitralvalve cleft), PH (rare)

Patent foramen ovale Normal Paradoxical embolism, platypnea-orthodeoxia syndrome Ostium secundum ASD ECG: lncomplete RBBB, RA enlargement, right axis Right heart enlargement, AF, PH (rare) deviation Post-repair: residual shunt (rare) CXR: Right heart enlargement, prominent pulmonary artery, increased pulmonary vascularity Ostium primum ASD ECG: Left axis deviation, first-degree Right heart enlargement, AF, mitral regurgitation atrioventricular block (from mitralvalve cleft), PH (rare) CXR: Right heart enlargement, prominent Post-repair: residual shunt (rare), mitral pulmonary artery, increased pulmonary vascularity regurgitation (from mitral valve cleft), LV outflow tract obstruction Sinus venosus ASD ECG: Abnormal P-wave axis Right heart enlargement, AF, PH (rare) CXR: Right heart enlargement, prominent Post-repair: residual shunt (rare), residual pulmonary a rtery, increased pulmonary vascularity anomalous pulmonary venous connection SmallVSD Normal Endocarditis Large VSD ECG: RV or RV/LV hypertrophy PH with associated RA and RV enlargement, RV hypertrophy, Eisenmenger syndrome CXR: RA and RV enlargement, increased pulmonary vascular markings; with PH: prominent Post-repair: residua I VSD, residual shu nt (rare) centra I pulmonary arteries, red uced periphera I

CXR: Right heart enlargement, prominent Post-repair: residual shunt (rare), mitral pulmonary artery, increased pulmonary vascularity regurgitation (from mitral valve cleft), LV outflow tract obstruction Sinus venosus ASD ECG: Abnormal P-wave axis Right heart enlargement, AF, PH (rare) CXR: Right heart enlargement, prominent Post-repair: residual shunt (rare), residual pulmonary a rtery, increased pulmonary vascularity anomalous pulmonary venous connection SmallVSD Normal Endocarditis Large VSD ECG: RV or RV/LV hypertrophy PH with associated RA and RV enlargement, RV hypertrophy, Eisenmenger syndrome CXR: RA and RV enlargement, increased pulmonary vascular markings; with PH: prominent Post-repair: residua I VSD, residual shu nt (rare) centra I pulmonary arteries, red uced periphera I pulmonary vascular markings Small PDA Normal Endocarditis Large PDA ECG: LA enlargement, LV hypertrophy; with PH: RV Endocarditis, right-sided heart failure, PH hypertrophy Eisenmenger syndrome CXR: Cardiomegaly, increased pulmonary vascular Post-repair: residual shunt (rare) markings, calcification of PDA (occasional); with PH: prominent central pulmonary arteries, reduced peripheral pulmonary vascular markings Pulmonary valve stenosis ECG: lf RV systolic pressure >60 mm Hg: RA Post-repa r: Severe pu mona ry va lve re g u rg itation i I

pulmonary vascular markings Small PDA Normal Endocarditis Large PDA ECG: LA enlargement, LV hypertrophy; with PH: RV Endocarditis, right-sided heart failure, PH hypertrophy Eisenmenger syndrome CXR: Cardiomegaly, increased pulmonary vascular Post-repair: residual shunt (rare) markings, calcification of PDA (occasional); with PH: prominent central pulmonary arteries, reduced peripheral pulmonary vascular markings Pulmonary valve stenosis ECG: lf RV systolic pressure >60 mm Hg: RA Post-repa r: Severe pu mona ry va lve re g u rg itation i I enlargement, right axis deviation, RV hypertrophy after pulmonary valvotomy or valvuloplasty CXR: Pulmonary artery dilatation, calcification of pulmonary valve (rare); RA enlargement may be noted Aortic coarctation ECG: LV hypertrophy and ST-T wave abnormalities Hypertension (75% of cases), bicuspid aortic valve (>50% of cases), increased risk for aortic aneurysm CXR: Dilated ascending aorta, "figure 3 sign" (ascending or at repair site) and intracranial aneurysm beneath aortic arch, rib notching from collateral vessels Post-repair: Recoa rctation, hypertension, aortic aneurysm Repaired tetralogy of Fallot ECG: RBBB, increased ORS duration (QRS duration Post-repair: ncreased atrial and ventricu lar I

enlargement, right axis deviation, RV hypertrophy after pulmonary valvotomy or valvuloplasty CXR: Pulmonary artery dilatation, calcification of pulmonary valve (rare); RA enlargement may be noted Aortic coarctation ECG: LV hypertrophy and ST-T wave abnormalities Hypertension (75% of cases), bicuspid aortic valve (>50% of cases), increased risk for aortic aneurysm CXR: Dilated ascending aorta, "figure 3 sign" (ascending or at repair site) and intracranial aneurysm beneath aortic arch, rib notching from collateral vessels Post-repair: Recoa rctation, hypertension, aortic aneurysm Repaired tetralogy of Fallot ECG: RBBB, increased ORS duration (QRS duration Post-repair: ncreased atrial and ventricu lar I reflects degree of RV dilatation) arrhythmia risk, pulmonary valve regurgitation or stenosis, tricuspid regurgitation CXR: Cardiomegaly with pulmonary or tricuspid valve regurgitation; right aortic arch in 25o/" of ORS >180 ms increases risk for ventricular tachycardia and sudden death Eisenmenger syndrome ECG: Right axis deviation, RA enlargement, RV Right-sided hea rt failure, hemoptysis, stroke hypertrophy CXR: RV dilatation, prominent pulmonary artery, reduced pulmonary vascularity AF=atrialfibrillation;ASD=atrialseptaldefect;CXR=chestradiography;LA= eftatrial;LV=leftventricular;PDA=patentductusareriosus;PH=pulmonaryhyperension; RA = right atrial; RBBB = right bundle branch block; RV = right ventricular; VSD = ventricular septal defect.

reflects degree of RV dilatation) arrhythmia risk, pulmonary valve regurgitation or stenosis, tricuspid regurgitation CXR: Cardiomegaly with pulmonary or tricuspid valve regurgitation; right aortic arch in 25o/" of ORS >180 ms increases risk for ventricular tachycardia and sudden death Eisenmenger syndrome ECG: Right axis deviation, RA enlargement, RV Right-sided hea rt failure, hemoptysis, stroke hypertrophy CXR: RV dilatation, prominent pulmonary artery, reduced pulmonary vascularity AF=atrialfibrillation;ASD=atrialseptaldefect;CXR=chestradiography;LA= eftatrial;LV=leftventricular;PDA=patentductusareriosus;PH=pulmonaryhyperension; RA = right atrial; RBBB = right bundle branch block; RV = right ventricular; VSD = ventricular septal defect. and then periodically afterward. Endocarditis prophylaxis is KtY POIilTS indicated for 6 months alter closure. Atrial fibrillation risk o Clinical findings in patients with an atrial septal defect persists after closure. and frequency increases related to age at include a parasternal impulse, fixed splitting of the 52, the time of ASD closure. Rare complications after device clo- and a pulmonary outflow murrnur. sure include device migration, erosion into the pericardium or (Continued) aorta, and sudden death. 93

\ Adult Congenital Heart Disease XtY P0ltIS (ominued) located at the left sternal border that obliterates Sr. Small VSDs r The main indications for atrial septal defect (ASD) clo do not cause lelt heart enlargement or PH. sure include right-sided cardiac chamber enlargement A VSD u'ith a moderate left to right shunt may cause left and dyspnea; asymptomatic, small ASDs without right ventricular (LV) volume overload and PH. Patients are asymp heart enlargement can be monitored with clinical and tomatic for many years but eventually present u'ith heart fail echocardiographic surveillance. ure s)'mptoms. A displaced LV apical impulse suggests rolume overload. A holosystolic murmur at the left sternal border is noted; the pressure gradient between the ventricles deter Ventricular Septal Defect mines the murmur quality and duration. Progressive PH results in reduced murmur ir.rtensity. Pathophysiology VSDs associatecl with large left to right shunts usually Ventricular septal defects (VSDs) are delined by their loca are detected by the presence of a murmur, heart failure. and tion on the ventricular septum (Figure 52). Membranous failure to thrive in infanclr Failure to close the defect early in VSDs are most common (80'X, of cases) and are usually iso life usually causes flxed PH within several years with subse- lated abnormalities. Muscular VSDs (10'/, of cases) can be quent development ol Eisennrenger syndrome (see later dis located anltvhere in the ventricular septum and often close cussion) and shunt reversal. spontaneously. Subpulmonary VSDs (also called outlet or :

XtY P0ltIS (ominued) located at the left sternal border that obliterates Sr. Small VSDs r The main indications for atrial septal defect (ASD) clo do not cause lelt heart enlargement or PH. sure include right-sided cardiac chamber enlargement A VSD u'ith a moderate left to right shunt may cause left and dyspnea; asymptomatic, small ASDs without right ventricular (LV) volume overload and PH. Patients are asymp heart enlargement can be monitored with clinical and tomatic for many years but eventually present u'ith heart fail echocardiographic surveillance. ure s)'mptoms. A displaced LV apical impulse suggests rolume overload. A holosystolic murmur at the left sternal border is noted; the pressure gradient between the ventricles deter Ventricular Septal Defect mines the murmur quality and duration. Progressive PH results in reduced murmur ir.rtensity. Pathophysiology VSDs associatecl with large left to right shunts usually Ventricular septal defects (VSDs) are delined by their loca are detected by the presence of a murmur, heart failure. and tion on the ventricular septum (Figure 52). Membranous failure to thrive in infanclr Failure to close the defect early in VSDs are most common (80'X, of cases) and are usually iso life usually causes flxed PH within several years with subse- lated abnormalities. Muscular VSDs (10'/, of cases) can be quent development ol Eisennrenger syndrome (see later dis located anltvhere in the ventricular septum and often close cussion) and shunt reversal. spontaneously. Subpulmonary VSDs (also called outlet or : supracristal VSDs) account for approxir.r.rately 6'X, of defects Diagnostic Evaluation in non Asian persons and 33'1, in Asian persons and are ECG and radiographic tindings in patients \\'ith a VSD are pre associated with aortic regurgitation caused by aortic cusp sented in Table 34. distortion. Inlet VSDs (4'X, of cases) occur in the superior TTE is the imagir.rg modality of choice for identilication posterior portion of the ventricular septum adjacent to the of VSD location, size. and hemodynamic impact. Rarely. TEE. tricuspid valve. They occur as part of the atrioventricular CMR imaging. or CT is needed to delineate cardiac anatomy septal defect complex, characteristically seen in patients when T'fE is unsatisfactory Cardiac catheterization is primar with Down syndrome. ily performed to delineate the Qp:Qs ratio and pulmonary VSDs are common at birth. but many small VSDs close pressures in select patients. spontaneclusly, resulting in lower prevalence by adulthood. Treatment Clinical Presentation VSD closure is indicated in the absence of PH when the Qp:Qs The presentation ofan isolated VSD depends on the VSD size ratio is 1.5 or greater with evidence clf LV volume overload. and pulmonary vascular resistance. A snrall VSD without PH Most patients are treated surgicallyr but percutaneous device presents with a loud (otten palpable) holosystolic nlurmur closure is an option lbr select VSDs. VSD closure is not indicated for patients with a small left to right shunt and no chamber enlargement or valve disease. but periodic clinical evaluation and imaging are recom ntended. Large VSDs lvith shunt reversal (right to lett shunt ing) and PH (Eisenmenger syndrome) should not be closed because this causes clir-rical deterioration owing to reduced cardiac output. Patients with small VSDs do nclt require activity restric tions. If the pulmonary artery pressure is greater than 50')1, ot' systolic blood pressure. isometric or competitire exercise is discouraged. Pregnancy in women with VSDs is generally lrell tolerated in the absence of P[{: women with VSDs and associated fixed PH should be counseled to avoid pregnanc,'.

supracristal VSDs) account for approxir.r.rately 6'X, of defects Diagnostic Evaluation in non Asian persons and 33'1, in Asian persons and are ECG and radiographic tindings in patients \\'ith a VSD are pre associated with aortic regurgitation caused by aortic cusp sented in Table 34. distortion. Inlet VSDs (4'X, of cases) occur in the superior TTE is the imagir.rg modality of choice for identilication posterior portion of the ventricular septum adjacent to the of VSD location, size. and hemodynamic impact. Rarely. TEE. tricuspid valve. They occur as part of the atrioventricular CMR imaging. or CT is needed to delineate cardiac anatomy septal defect complex, characteristically seen in patients when T'fE is unsatisfactory Cardiac catheterization is primar with Down syndrome. ily performed to delineate the Qp:Qs ratio and pulmonary VSDs are common at birth. but many small VSDs close pressures in select patients. spontaneclusly, resulting in lower prevalence by adulthood. Treatment Clinical Presentation VSD closure is indicated in the absence of PH when the Qp:Qs The presentation ofan isolated VSD depends on the VSD size ratio is 1.5 or greater with evidence clf LV volume overload. and pulmonary vascular resistance. A snrall VSD without PH Most patients are treated surgicallyr but percutaneous device presents with a loud (otten palpable) holosystolic nlurmur closure is an option lbr select VSDs. VSD closure is not indicated for patients with a small left to right shunt and no chamber enlargement or valve disease. but periodic clinical evaluation and imaging are recom ntended. Large VSDs lvith shunt reversal (right to lett shunt ing) and PH (Eisenmenger syndrome) should not be closed because this causes clir-rical deterioration owing to reduced cardiac output. Patients with small VSDs do nclt require activity restric tions. If the pulmonary artery pressure is greater than 50')1, ot' systolic blood pressure. isometric or competitire exercise is discouraged. Pregnancy in women with VSDs is generally lrell tolerated in the absence of P[{: women with VSDs and associated fixed PH should be counseled to avoid pregnanc,'. Follow-up After Ventricular Septal Defect Closure Residual clr recurrent VSD. arrhythmias. PH. endocarditis. and valve regurgitation are recognized complications fbllolv ing VSD closure. Endocarditis prophylaxis should be pro FIGURE 52. Positionsofvariousventricularseptaldefectsviewedfromtheleft vided for 6 months lbllorving closure. Clinical assessment side of the heart. (1 ) Membranous; (2) subpulmonary; (3) muscular; (4) inlet. Ao = aorta; LA = left atrium. and TTE are recommended within 1 year of VSD closure. Redrawn irom origina supp ied coudesy of Dr Willianr D Edwardg, Depa(ment of Laboratory Medic ne and Subsequent fbllow up frequency depends on clinical and Pathology, [,'layo Clinic, Rochester, l\rN. cardiac status.

Follow-up After Ventricular Septal Defect Closure Residual clr recurrent VSD. arrhythmias. PH. endocarditis. and valve regurgitation are recognized complications fbllolv ing VSD closure. Endocarditis prophylaxis should be pro FIGURE 52. Positionsofvariousventricularseptaldefectsviewedfromtheleft vided for 6 months lbllorving closure. Clinical assessment side of the heart. (1 ) Membranous; (2) subpulmonary; (3) muscular; (4) inlet. Ao = aorta; LA = left atrium. and TTE are recommended within 1 year of VSD closure. Redrawn irom origina supp ied coudesy of Dr Willianr D Edwardg, Depa(ment of Laboratory Medic ne and Subsequent fbllow up frequency depends on clinical and Pathology, [,'layo Clinic, Rochester, l\rN. cardiac status. 94

Adult Congenital Heart Disease XEY POIXTS rtY P0rtrs . A small ventricular septal defect without pulmonary . A continuous "machinery" murmur heard beneath the hypertension presents with a loud holosystolic murmur left clavicle that makes the 52 inaudible is typical for a located at the left sternal border that obliterates Sr. patent dttctus arteriosus. e Ventricular septal defect closure is indicated when the . Patent ductus arteriosus closure is indicated for left pulmonary to systemic blood flow ratio is 1.5 or greater sided cardiac chamber enlargement as long as pulmo with evidence of left ventricular volume overload. nary artery systolic pressure is less than 50'/. systemic.

XEY POIXTS rtY P0rtrs . A small ventricular septal defect without pulmonary . A continuous "machinery" murmur heard beneath the hypertension presents with a loud holosystolic murmur left clavicle that makes the 52 inaudible is typical for a located at the left sternal border that obliterates Sr. patent dttctus arteriosus. e Ventricular septal defect closure is indicated when the . Patent ductus arteriosus closure is indicated for left pulmonary to systemic blood flow ratio is 1.5 or greater sided cardiac chamber enlargement as long as pulmo with evidence of left ventricular volume overload. nary artery systolic pressure is less than 50'/. systemic. Patent Ductus Arteriosus Pulmonary Stenosis Pathophysiology Pathophysiology A patent ductus arteriosus (PDA) is a persistellt fetal connection Pulmonary stenosis (PS) causes obstruction to right ventricu between the aorta and the left pulmonary artery. It may be an lar outflow and is usually an isolated valve lesion. Isolated PS isolated abnormality or associated with other congenital cardiac is associated with Noonan syndrome, an autosomal dominant defects. Prematurity and maternal ruhella predispose to a PDA. disorcler characterized by short stature, variable intellectual capacity, neck webbing, and ocular hypertekrrism (abnormally Clinical Presentation increased clistance befween the orbits). The typical murmur of a PDA is a continuous "machinery" murmur that envelops the Sr, making it inaudible; the mur Clinical Presentation mur is heard beneath the left clavicle. A tiny PDA is generally Mild and moderate PS is generally asymptomatic. On physical asymptomatic and inaudible. Patients with a moderate sized examination, mild PS is associated with a normal jugular PDA may present with bounding pulses, wide arterial pulse venous wavefbrm and precordial impulse. pressure, left heart enlargement and dysfunction, and, rarely, Severe PS can cause exertional dyspnea. Right ventricular clinical heart failure. A large unrepaired PDA may c:ruse PH hypertrophy caused by pressure overload results in a promi with eventual shunt reversal (Eisenmenger syndrome); char nent o wave on the jugular venous waveform and a palpable acteristic features of an Eisenmenger PDA are clubbing and right ventricular lift. oxygen desaturation afl'ecting the feet but not the hands, Auscultatory findings in PS include an early systolic owing to desaturated blood reaching the lower extremities ejection click, which is the only right sided heart sound to preferentially (di lferential cyanosis). decrease during inspiration, followed by a crescendo decrescendo murmur. In severe PS, the systolic ejection Diagnostic Evaluation murmur at the lef t sternal border increases in intensity and ECG and radiographic findings in patients with a PDA are pre- duration, and the pulmonary component of S, is delayed sented in Table 34. (causing a split S,) and eventually disappears. A right ven- TTE is the imaging modality of choice for identification of tricular S, is oflen heard in severe PS. a PDA. The PDA may be difficult to visualize in patients with severe PH owing to equalization of pressures between the Diagnostic Evaluation aorta and pulmonary artery. Intravenously injected agitated ECG and radiographic findings in patients with PS are pre- saline may demonstrate the shunt trom the pulmonary artery sented in Table 34. to the descending thoracic aorta via the PDA. [n patients with T1'E is the imaging modality of choice for identification of a PDA and PH, cardiac catheterization is used to determine PS. Severe PS is present with a peak gradient greater than shunt size and reversibility of PH. Angiography confirms PDA 64 rnm Hg and mean gradient greater than 35 mm Hg. morphologz and helps determine rvhether percutaneous clo Treatment options depend on valve mobility, calcification, and sure is feasible. TEE, CT, and CMR imaging may identify a PDA the eftbcts ofobstruction on the right ventricle. PS causes right but are not the primary diagnostic techniques. ventricular hypertrophy rather than enlargement. Right ven tricular dilatation should prompt a search fbr an associated Treatment lesion, such as pulmonary regurgitation or an ASD.'lEE, CMR PDA closure is indicated for left sided carcliac chamber imaging, and CT are not routinely used in patients with PS. enlargement as long as pulmonary artery systolic pressure is Cardiac catheterization is performed when percutaneous less than 50'/. systemic. Percutaneous closure is usually per intervention lbr PS is considered. formed; referral to a congenital cardiac center for considera tion of closure options is recommended. Treatment Patients with a small PDA u'ithout PH do not require Pulmonary balloon valvuloplasty is the pref'erred treatment physical activity restrictions, and women should be able to for valvular PS. lt is indicated for symptomatic patients with tolerate pregnancy. appropriate valve morphology who have moderate or severe

Patent Ductus Arteriosus Pulmonary Stenosis Pathophysiology Pathophysiology A patent ductus arteriosus (PDA) is a persistellt fetal connection Pulmonary stenosis (PS) causes obstruction to right ventricu between the aorta and the left pulmonary artery. It may be an lar outflow and is usually an isolated valve lesion. Isolated PS isolated abnormality or associated with other congenital cardiac is associated with Noonan syndrome, an autosomal dominant defects. Prematurity and maternal ruhella predispose to a PDA. disorcler characterized by short stature, variable intellectual capacity, neck webbing, and ocular hypertekrrism (abnormally Clinical Presentation increased clistance befween the orbits). The typical murmur of a PDA is a continuous "machinery" murmur that envelops the Sr, making it inaudible; the mur Clinical Presentation mur is heard beneath the left clavicle. A tiny PDA is generally Mild and moderate PS is generally asymptomatic. On physical asymptomatic and inaudible. Patients with a moderate sized examination, mild PS is associated with a normal jugular PDA may present with bounding pulses, wide arterial pulse venous wavefbrm and precordial impulse. pressure, left heart enlargement and dysfunction, and, rarely, Severe PS can cause exertional dyspnea. Right ventricular clinical heart failure. A large unrepaired PDA may c:ruse PH hypertrophy caused by pressure overload results in a promi with eventual shunt reversal (Eisenmenger syndrome); char nent o wave on the jugular venous waveform and a palpable acteristic features of an Eisenmenger PDA are clubbing and right ventricular lift. oxygen desaturation afl'ecting the feet but not the hands, Auscultatory findings in PS include an early systolic owing to desaturated blood reaching the lower extremities ejection click, which is the only right sided heart sound to preferentially (di lferential cyanosis). decrease during inspiration, followed by a crescendo decrescendo murmur. In severe PS, the systolic ejection Diagnostic Evaluation murmur at the lef t sternal border increases in intensity and ECG and radiographic findings in patients with a PDA are pre- duration, and the pulmonary component of S, is delayed sented in Table 34. (causing a split S,) and eventually disappears. A right ven- TTE is the imaging modality of choice for identification of tricular S, is oflen heard in severe PS. a PDA. The PDA may be difficult to visualize in patients with severe PH owing to equalization of pressures between the Diagnostic Evaluation aorta and pulmonary artery. Intravenously injected agitated ECG and radiographic findings in patients with PS are pre- saline may demonstrate the shunt trom the pulmonary artery sented in Table 34. to the descending thoracic aorta via the PDA. [n patients with T1'E is the imaging modality of choice for identification of a PDA and PH, cardiac catheterization is used to determine PS. Severe PS is present with a peak gradient greater than shunt size and reversibility of PH. Angiography confirms PDA 64 rnm Hg and mean gradient greater than 35 mm Hg. morphologz and helps determine rvhether percutaneous clo Treatment options depend on valve mobility, calcification, and sure is feasible. TEE, CT, and CMR imaging may identify a PDA the eftbcts ofobstruction on the right ventricle. PS causes right but are not the primary diagnostic techniques. ventricular hypertrophy rather than enlargement. Right ven tricular dilatation should prompt a search fbr an associated Treatment lesion, such as pulmonary regurgitation or an ASD.'lEE, CMR PDA closure is indicated for left sided carcliac chamber imaging, and CT are not routinely used in patients with PS. enlargement as long as pulmonary artery systolic pressure is Cardiac catheterization is performed when percutaneous less than 50'/. systemic. Percutaneous closure is usually per intervention lbr PS is considered. formed; referral to a congenital cardiac center for considera tion of closure options is recommended. Treatment Patients with a small PDA u'ithout PH do not require Pulmonary balloon valvuloplasty is the pref'erred treatment physical activity restrictions, and women should be able to for valvular PS. lt is indicated for symptomatic patients with tolerate pregnancy. appropriate valve morphology who have moderate or severe 95

Adult Congenital Heart Disease valvular PS (moderate peak gradient, 36 64 mm Hg; severe widely spaced nipples. Aortic coarctation is also associated peak gradient, >64 mm Hg; mean gradient, >35 mm Hg) and with bicuspid aortic and subaortic stenosis. mitral valve otherwise unexplained symptoms of heart failure, cyanosis abnormalities (Shone syndrome), ventricular septal defect. from interatrial right to left communication, and/or exercise and cerebral aneurysms. intolerance. Surgical intervention is recommended for PS associated with a small annulus, more than moderate pulmo- Diagnostic Evaluation nary regurgitation, severe subvalvar or supravalvar PS, or ECG and radiographic findings in patients with aortic coarcta another cardiac lesion that requires operative intervention. tion are presented in Table 34. Patients with mild or moderate PS do not require exercise The characteristic radiographic features of aortic coarctation restriction. Patients with severe PS should participate in low- include the "figure 3 sign" (Figurr 53), which is caused by dilata intensity sports only. tion ofthe aorta above and below the area ofcoarctation. Dilatation Pregnancy is generally well-tolerated with PS; percutane- of intercostal collateral arteries because of aortic obstruction may ous valvotomy has been performed during pregnancy for lead to the radiographic appearance ofrib notching. severe symptomatic PS. Sporadic CHD recurrence in offspring TTE is often the initial diagnostic test in patients sus- is rare. Noonan syndrome should be suspected with PS recur pected of having aortic coarctation; it usually identifies the rence in offspring. coarctation and associated features, such as bicuspid aortic valve and LV hypertrophy. CMR imaging and CT are recom Follow-up After Pulmonary Stenosis Repair mended to identif,i the anatomy, severiry and location of the Patients with previous PS intervention (balloon or surgical) often coarctation; the presence of collateral vessels; and associated have severe pulmonary regurgitation; thus, long term clinical abnormalities, such as aortic aneurysm. Cardiac catheteriza and TTE follow up is recommended. The frequency of follow-up tion is primarily used in patients in whom percutaneous inter depends on regurgitation severity and impact on the heart. vention is being considered. r(EY P0t 1{IS Treatment o Auscultation findings in pulmonary stenosis include an Severe aortic coarctation is associated \ /ith excess morbidity early systolic ejection click followed by a crescendo and mortality, including hypertension, coronary artery dis decrescendo murmur. ease, stroke, aortic dissection, and heart failure. Age at the o Pulmonary balloon valvuloplasty is the preferred treat- ment for valvular pulmonary stenosis.

valvular PS (moderate peak gradient, 36 64 mm Hg; severe widely spaced nipples. Aortic coarctation is also associated peak gradient, >64 mm Hg; mean gradient, >35 mm Hg) and with bicuspid aortic and subaortic stenosis. mitral valve otherwise unexplained symptoms of heart failure, cyanosis abnormalities (Shone syndrome), ventricular septal defect. from interatrial right to left communication, and/or exercise and cerebral aneurysms. intolerance. Surgical intervention is recommended for PS associated with a small annulus, more than moderate pulmo- Diagnostic Evaluation nary regurgitation, severe subvalvar or supravalvar PS, or ECG and radiographic findings in patients with aortic coarcta another cardiac lesion that requires operative intervention. tion are presented in Table 34. Patients with mild or moderate PS do not require exercise The characteristic radiographic features of aortic coarctation restriction. Patients with severe PS should participate in low- include the "figure 3 sign" (Figurr 53), which is caused by dilata intensity sports only. tion ofthe aorta above and below the area ofcoarctation. Dilatation Pregnancy is generally well-tolerated with PS; percutane- of intercostal collateral arteries because of aortic obstruction may ous valvotomy has been performed during pregnancy for lead to the radiographic appearance ofrib notching. severe symptomatic PS. Sporadic CHD recurrence in offspring TTE is often the initial diagnostic test in patients sus- is rare. Noonan syndrome should be suspected with PS recur pected of having aortic coarctation; it usually identifies the rence in offspring. coarctation and associated features, such as bicuspid aortic valve and LV hypertrophy. CMR imaging and CT are recom Follow-up After Pulmonary Stenosis Repair mended to identif,i the anatomy, severiry and location of the Patients with previous PS intervention (balloon or surgical) often coarctation; the presence of collateral vessels; and associated have severe pulmonary regurgitation; thus, long term clinical abnormalities, such as aortic aneurysm. Cardiac catheteriza and TTE follow up is recommended. The frequency of follow-up tion is primarily used in patients in whom percutaneous inter depends on regurgitation severity and impact on the heart. vention is being considered. r(EY P0t 1{IS Treatment o Auscultation findings in pulmonary stenosis include an Severe aortic coarctation is associated \ /ith excess morbidity early systolic ejection click followed by a crescendo and mortality, including hypertension, coronary artery dis decrescendo murmur. ease, stroke, aortic dissection, and heart failure. Age at the o Pulmonary balloon valvuloplasty is the preferred treat- ment for valvular pulmonary stenosis. Aortic Coarctation Pathophysiology Aortic coarctation is a discrete narrowing of the aorta. usually located just beyond the left subclavian artery causing hyper- tension proximal and hypotension distal to the narrowing.

valvular PS (moderate peak gradient, 36 64 mm Hg; severe widely spaced nipples. Aortic coarctation is also associated peak gradient, >64 mm Hg; mean gradient, >35 mm Hg) and with bicuspid aortic and subaortic stenosis. mitral valve otherwise unexplained symptoms of heart failure, cyanosis abnormalities (Shone syndrome), ventricular septal defect. from interatrial right to left communication, and/or exercise and cerebral aneurysms. intolerance. Surgical intervention is recommended for PS associated with a small annulus, more than moderate pulmo- Diagnostic Evaluation nary regurgitation, severe subvalvar or supravalvar PS, or ECG and radiographic findings in patients with aortic coarcta another cardiac lesion that requires operative intervention. tion are presented in Table 34. Patients with mild or moderate PS do not require exercise The characteristic radiographic features of aortic coarctation restriction. Patients with severe PS should participate in low- include the "figure 3 sign" (Figurr 53), which is caused by dilata intensity sports only. tion ofthe aorta above and below the area ofcoarctation. Dilatation Pregnancy is generally well-tolerated with PS; percutane- of intercostal collateral arteries because of aortic obstruction may ous valvotomy has been performed during pregnancy for lead to the radiographic appearance ofrib notching. severe symptomatic PS. Sporadic CHD recurrence in offspring TTE is often the initial diagnostic test in patients sus- is rare. Noonan syndrome should be suspected with PS recur pected of having aortic coarctation; it usually identifies the rence in offspring. coarctation and associated features, such as bicuspid aortic valve and LV hypertrophy. CMR imaging and CT are recom Follow-up After Pulmonary Stenosis Repair mended to identif,i the anatomy, severiry and location of the Patients with previous PS intervention (balloon or surgical) often coarctation; the presence of collateral vessels; and associated have severe pulmonary regurgitation; thus, long term clinical abnormalities, such as aortic aneurysm. Cardiac catheteriza and TTE follow up is recommended. The frequency of follow-up tion is primarily used in patients in whom percutaneous inter depends on regurgitation severity and impact on the heart. vention is being considered. r(EY P0t 1{IS Treatment o Auscultation findings in pulmonary stenosis include an Severe aortic coarctation is associated \ /ith excess morbidity early systolic ejection click followed by a crescendo and mortality, including hypertension, coronary artery dis decrescendo murmur. ease, stroke, aortic dissection, and heart failure. Age at the o Pulmonary balloon valvuloplasty is the preferred treat- ment for valvular pulmonary stenosis. Aortic Coarctation Pathophysiology Aortic coarctation is a discrete narrowing of the aorta. usually located just beyond the left subclavian artery causing hyper- tension proximal and hypotension distal to the narrowing. Clinical Presentation Aortic coarctation should be suspected in all patients with severe hypertension, especially young patients. Severe aortic coarctation may present as heart failure early in life. Adults are usually asymptomatic, but exertional leg fatigue or headaches may occur. Upper extremity hypertension and reduced blood pressure and pulse amplitude in the lower extremities cause a radial artery-to femoral artery pulse delay. A systolic or con tinuous murmur is heard in the left infraclavicular region or over the back. A murmur from collateral intercostal vessels also may be audible and palpable over the chest wall. Fifty percent of patients with aortic coarctation have a bicuspid aortic valve. Auscultation of the heart may reveal an ejection click, a systolic murmur at the cardiac base, or, sometimes, an S.. Turner syndrome, a chromosomal abnormality secondary to partial or total loss of chromosome X, is often associated Fl G U RE 53. Chest radiograph of a patient with aortic coarctation exhibiting with coarctation and bicuspid aortic valve. Turner syndrome is the "figure 3 sign," caused by dilatation of the aorta above and below the area of characterized by short stature, webbed neck, broad chest, and coarctation (blue anow), and rib notching (white arrowsl.

Clinical Presentation Aortic coarctation should be suspected in all patients with severe hypertension, especially young patients. Severe aortic coarctation may present as heart failure early in life. Adults are usually asymptomatic, but exertional leg fatigue or headaches may occur. Upper extremity hypertension and reduced blood pressure and pulse amplitude in the lower extremities cause a radial artery-to femoral artery pulse delay. A systolic or con tinuous murmur is heard in the left infraclavicular region or over the back. A murmur from collateral intercostal vessels also may be audible and palpable over the chest wall. Fifty percent of patients with aortic coarctation have a bicuspid aortic valve. Auscultation of the heart may reveal an ejection click, a systolic murmur at the cardiac base, or, sometimes, an S.. Turner syndrome, a chromosomal abnormality secondary to partial or total loss of chromosome X, is often associated Fl G U RE 53. Chest radiograph of a patient with aortic coarctation exhibiting with coarctation and bicuspid aortic valve. Turner syndrome is the "figure 3 sign," caused by dilatation of the aorta above and below the area of characterized by short stature, webbed neck, broad chest, and coarctation (blue anow), and rib notching (white arrowsl. 96

Adult Congenital Heart Disease time of coarctation repair is the most important predictor of long term survival. Indications for intervention in patients with coarctation include upper extremity hypertension and features of significant aortic coarctation (upper exlremity/lower ertremi$z resting sys tolic peak [peak to peakl pressure gradient >20 mm Hg or mean Doppler gradient >20 mm Hg with normal LV systolic function; upper extremity/lower extremigr gradient >10 mm Hg or mean Doppler gradient >10 mm Hg plus either decreased LV systolic function, aortic valve regurgitation, or collateral flow) and radio logic (CT or CMR) evidence of severe coarctation with collateral flow. The choice between percutaneous or surgical intervention depends on the length, location, and severity of coarctation and the presence of associated cardiovascular lesions. Physical activity restriction is recommended for patients with severe postintervention residual or unrepaired coarcta tion, aoftic stenosis, or a dilated aorta; these patients should avoid contact sports and isometric exercise. A comprehensive preconception evaluation is warranted in all patients with coarctation who are considering preg nancy. Pregnancy is reasonable in women with repaired aortic FIGURE 54,TetralogyofFallot.Asubarterialventricularseptaldefect(asterlsk) coarctation without significant residua. Women with mild or and subpulmonary and pulmonary valve stenosis (arrow) are associated with moderate residua or unoperated coarctation will generally secondary aortic override and right ventricular hypertroptry. Ao = aorta; LA= left tolerate pregnancy well but should undergo blood pressure atrium; LV= leftventricle; RA= right atrium; RV= rightventricle. monitoring and cardiovascular evaluation during pregnancy. Redrawn from origina supplied c0udesy 0f Dr. William D. Edwards, Departmert of Laboratory Medicine and Pathology, [,4ayo Clinic, Rochester, l\r]N.

tolerate pregnancy well but should undergo blood pressure atrium; LV= leftventricle; RA= right atrium; RV= rightventricle. monitoring and cardiovascular evaluation during pregnancy. Redrawn from origina supplied c0udesy 0f Dr. William D. Edwards, Departmert of Laboratory Medicine and Pathology, [,4ayo Clinic, Rochester, l\r]N. Pregnancy should be avoided by patients with severe unre paired coarctation. common cyanotic congenital cardiac lesion. Repair is usually Follow-up After Aortic Coarctation Repair performed eariy in life; adults who have not undergone an Following coarctation repair, hypertension occurs in up to 75% of operation are rarely encountered in developed countries. patients and should be treated. Additional intervention following Genetic screening is reasonable for patients with repair may be required for bicuspid aortic valve, aortic aneurysm conotruncal defects for recognition of comorbidities and or dissection, recoarctation, coronary artery disease, systolic or counseling for risk of recurrence in offspring. Approximately 15% of patients with TOF have the22qll.2 chromosome micro- diastolic hearl failure, or intracranial aneurysm. Regular follow up should include TTE, periodic aortic imaging by CT or CIr4R, deletion (DiGeorge syndrome); when present, CHD inherit and evaluation by a cardiologist specializing in CHD. ance is approximately 50%, compared with 5% in unaffected patients. TOF is common in persons with Down syndrome. KEY POIT{T5 TOF repair involves VSD patch closure and relief of PS/ o In patients with aortic coarctation, findings may include right ventricular outflow tract obstruction by transannular upper extremit5z hypertension and reduced blood pressure patch placement; the transannuiar patch disrupts integrity of and pulse amplitude in the lower extremities, causing a the pulmonary valve, causing severe pulmonary regurgitation radial artery-to femoral artery pulse delay. (distended neck veins, loud Sr, diastolic murmur at the second . The "figure 3 sign'is a characteristic radiographic feature left intercostal space that increases with inspiration). Severe of aortic coarctation. long standing pulmonary regurgitation causes right heart enlargement, tricuspid regurgitation, exercise limitation, and . Intervention is indicated in patients with upper extrem both atrial and ventricular arrhy'thmias and is the most com- ity hlpertension, features of significant aortic coarcta- mon reason for reoperation after TOF repair. The incidence of tion, and radiologic evidence of severe coarctation with sudden cardiac death after surgical repair of TOF is approxi- collateral flow. mately 2"/n pe.r decade. Primary prevention of sudden cardiac death with an implantable cardioverter defibrillator should be considered in patients with ejection fraction of 35'/. or less and Tetralogy of Fallot New York Heart Association functional class II or III symp Tetralogz of Fallot (TOF) is characterized by a large subaortic toms. Annual congenital cardiology follow up is recom- VSD, infundibular and/or valvular PS, aorlic override, and mended for patients with repaired TOF to determine optimal right ventricular hypertrophy (Figure 54). It is the most timing for intervention.

Pregnancy should be avoided by patients with severe unre paired coarctation. common cyanotic congenital cardiac lesion. Repair is usually Follow-up After Aortic Coarctation Repair performed eariy in life; adults who have not undergone an Following coarctation repair, hypertension occurs in up to 75% of operation are rarely encountered in developed countries. patients and should be treated. Additional intervention following Genetic screening is reasonable for patients with repair may be required for bicuspid aortic valve, aortic aneurysm conotruncal defects for recognition of comorbidities and or dissection, recoarctation, coronary artery disease, systolic or counseling for risk of recurrence in offspring. Approximately 15% of patients with TOF have the22qll.2 chromosome micro- diastolic hearl failure, or intracranial aneurysm. Regular follow up should include TTE, periodic aortic imaging by CT or CIr4R, deletion (DiGeorge syndrome); when present, CHD inherit and evaluation by a cardiologist specializing in CHD. ance is approximately 50%, compared with 5% in unaffected patients. TOF is common in persons with Down syndrome. KEY POIT{T5 TOF repair involves VSD patch closure and relief of PS/ o In patients with aortic coarctation, findings may include right ventricular outflow tract obstruction by transannular upper extremit5z hypertension and reduced blood pressure patch placement; the transannuiar patch disrupts integrity of and pulse amplitude in the lower extremities, causing a the pulmonary valve, causing severe pulmonary regurgitation radial artery-to femoral artery pulse delay. (distended neck veins, loud Sr, diastolic murmur at the second . The "figure 3 sign'is a characteristic radiographic feature left intercostal space that increases with inspiration). Severe of aortic coarctation. long standing pulmonary regurgitation causes right heart enlargement, tricuspid regurgitation, exercise limitation, and . Intervention is indicated in patients with upper extrem both atrial and ventricular arrhy'thmias and is the most com- ity hlpertension, features of significant aortic coarcta- mon reason for reoperation after TOF repair. The incidence of tion, and radiologic evidence of severe coarctation with sudden cardiac death after surgical repair of TOF is approxi- collateral flow. mately 2"/n pe.r decade. Primary prevention of sudden cardiac death with an implantable cardioverter defibrillator should be considered in patients with ejection fraction of 35'/. or less and Tetralogy of Fallot New York Heart Association functional class II or III symp Tetralogz of Fallot (TOF) is characterized by a large subaortic toms. Annual congenital cardiology follow up is recom- VSD, infundibular and/or valvular PS, aorlic override, and mended for patients with repaired TOF to determine optimal right ventricular hypertrophy (Figure 54). It is the most timing for intervention. 97

l l .t I ; ! Adult Congenital Heart Disease l l Diagnostic Evaluation After Repair and cyanosis. Physical leatures include digital clubbing and 1 of Tetralogy of Fallot central cyanosis. Patients are predisposed to arthropathll gout. 1 ECG and radiographic findings in patients with repaired TOF scoliosis, gallstones. pulmonary hemorrhage or thrombus. are presented in Table 34. paradoxical cerebral emboli or abscess. kidnel, d1'sfunction. I Symptoms, arrhythmias, or right heart enlargement hemostatic problems, and pheochromocvtoma paragangli t should prompt a search for severe pulmonary regurgitation. oma. Patients with cyanotic CI ID should be evaluated annualll, I Prolongation of the QRS complex reflects the degree of right by a congenital cardiac specialist. ventricular dilatation; QRS duration of 180 ms or longer and Perioperative complications are common in patients u'ith i nonsustained ventricular tachycardia are risk factors for sud cyanosis: thus. elective procedures and operations should be I den cardiac death. performed at specialized multidisciplinary care centers. A con i

of Tetralogy of Fallot central cyanosis. Patients are predisposed to arthropathll gout. 1 ECG and radiographic findings in patients with repaired TOF scoliosis, gallstones. pulmonary hemorrhage or thrombus. are presented in Table 34. paradoxical cerebral emboli or abscess. kidnel, d1'sfunction. I Symptoms, arrhythmias, or right heart enlargement hemostatic problems, and pheochromocvtoma paragangli t should prompt a search for severe pulmonary regurgitation. oma. Patients with cyanotic CI ID should be evaluated annualll, I Prolongation of the QRS complex reflects the degree of right by a congenital cardiac specialist. ventricular dilatation; QRS duration of 180 ms or longer and Perioperative complications are common in patients u'ith i nonsustained ventricular tachycardia are risk factors for sud cyanosis: thus. elective procedures and operations should be I den cardiac death. performed at specialized multidisciplinary care centers. A con i TTE is the imaging modality of choice for identifying valve genital cardiac specialist should be consulted rt hen patients are i hospitalized. and anesthesia should be administered b1'provid t dysfunction, residual VSD, LV dysfunction, and aortic dilata I tion. CMR imaging or CT is preferred for assessment of right ers with expertise in anesthetic management of CHD. Addi l ventricular size and function, which helps determine appro tional considerations include endocarditis prophl'laxis ftrr I priate timing for pulmonary valve replacement. Cardiac cath nonsterile procedures: placement of intravenous line filters to eterization may be required to assess hemodynamics and prevent paradoxical air embolism; and early ambulation. residual shunts and to delineate coronary artery and pulmo pneunratic compression devices. and anticoagulation to pre nary artery anatomy. vent venous thrombosis and paradorical enrbolism. Venous I thromboembolism prophylaxis is especially important in these Treatment of Tetralogy of Fallot Residua patients because ofthe risk for paradoxical embolism ifvenous I

TTE is the imaging modality of choice for identifying valve genital cardiac specialist should be consulted rt hen patients are i hospitalized. and anesthesia should be administered b1'provid t dysfunction, residual VSD, LV dysfunction, and aortic dilata I tion. CMR imaging or CT is preferred for assessment of right ers with expertise in anesthetic management of CHD. Addi l ventricular size and function, which helps determine appro tional considerations include endocarditis prophl'laxis ftrr I priate timing for pulmonary valve replacement. Cardiac cath nonsterile procedures: placement of intravenous line filters to eterization may be required to assess hemodynamics and prevent paradoxical air embolism; and early ambulation. residual shunts and to delineate coronary artery and pulmo pneunratic compression devices. and anticoagulation to pre nary artery anatomy. vent venous thrombosis and paradorical enrbolism. Venous I thromboembolism prophylaxis is especially important in these Treatment of Tetralogy of Fallot Residua patients because ofthe risk for paradoxical embolism ifvenous I Indications for pulmonary valve replacement in patients r,tith thromboembolism were to occur. t i repaired TOF and severe pulmonary regurgitation include Most patients with cyanosis have compensated, stable '1

Indications for pulmonary valve replacement in patients r,tith thromboembolism were to occur. t i repaired TOF and severe pulmonary regurgitation include Most patients with cyanosis have compensated, stable '1 symptoms, decreased exercise tolerance, more than moderate erythrocytosis to improve oxygen transport. Phlebotomy is -t right heart enlargement or mild or moderate right or left heart recommended for patients with symptomatic hypen'iscosity I (headaches. reduced concentration) with a hemoglobin level dysfunction, arrhythmias, and development of tricuspid regur- gitation. Tricuspid valve repair may also be needed. Pulmonary greater than 20 gidl (200 Bi L) and hematocrit greater than valve replacement is reasonable in asymptomatic patients with 65'/. in the absence of dehydration. Phlebotomy should be -l I repaired TOF and ventricular enlargement or dysfunction and performed no more than three times each year and should be 1 moderate or greater pulmonary regurgitation. Percutaneous follor.r,ed by fluid administration. Repeated phlebotomies pulmonaryvalve replacement is possible in select patients with deplete iron stores, with increased risk for stroke as a possible : I previous TOF surgery and a native pulmonary valve. consequence of iron deficiency. Iron therapy is indicated in I cases of deflciency. Physical activity restriction is recommended for patients :

symptoms, decreased exercise tolerance, more than moderate erythrocytosis to improve oxygen transport. Phlebotomy is -t right heart enlargement or mild or moderate right or left heart recommended for patients with symptomatic hypen'iscosity I (headaches. reduced concentration) with a hemoglobin level dysfunction, arrhythmias, and development of tricuspid regur- gitation. Tricuspid valve repair may also be needed. Pulmonary greater than 20 gidl (200 Bi L) and hematocrit greater than valve replacement is reasonable in asymptomatic patients with 65'/. in the absence of dehydration. Phlebotomy should be -l I repaired TOF and ventricular enlargement or dysfunction and performed no more than three times each year and should be 1 moderate or greater pulmonary regurgitation. Percutaneous follor.r,ed by fluid administration. Repeated phlebotomies pulmonaryvalve replacement is possible in select patients with deplete iron stores, with increased risk for stroke as a possible : I previous TOF surgery and a native pulmonary valve. consequence of iron deficiency. Iron therapy is indicated in I cases of deflciency. Physical activity restriction is recommended for patients : with repaired TOF and residual sequelae; contact sports and Maternal and fetal morbidity and mortality increase healy isometric exercise should be avoided. related to the degree of cyanosis and pulmonary pressures. and all pregnancy in women with cyanosis is considered high I t([Y POtXTS risk. Reproductive counseling is recommended. I

with repaired TOF and residual sequelae; contact sports and Maternal and fetal morbidity and mortality increase healy isometric exercise should be avoided. related to the degree of cyanosis and pulmonary pressures. and all pregnancy in women with cyanosis is considered high I t([Y POtXTS risk. Reproductive counseling is recommended. I I o Genetic screening is recommended for all patients with I tetralogr of Fallot who are considering pregnancy Eisenmenger Syndrome I because the presence of the 22q11.2 chromosome Eisennrenger syndrome is severe PH with cardiac shunt rever i

I o Genetic screening is recommended for all patients with I tetralogr of Fallot who are considering pregnancy Eisenmenger Syndrome I because the presence of the 22q11.2 chromosome Eisennrenger syndrome is severe PH with cardiac shunt rever i microdeletion (15'/" of patients) results in congenital sal (right to left shunting) caused by long standing. unre heart disease inheritance of approximately 507,. paired VSD. PDA. or ASD or another lesion. TTE evah.ration and o Indications for pulmonary valve replacement in patients appropriate intervention has decreased the frequency of' with repaired tetralogr of Fallot and severe pulmonary Eisenmenger syndrome, but PH related to complex CHD is regurgitation include syrnptoms, decreased exercise tol increasingly identifi ed. erance, more than moderate right heart enlargement. Consenative medical measures fbr patients with Eisen mild or moderate right or left heart dysfunction, arrhyth- menger syndrome include avoiding iron deficiency. dehldration. mias, and development of tricuspid regurgitation. acute exposure to excess heat, and moderate or severe strenuous or isometric exercise. Phlebotomy is rarely performed. Long term altitude exposure should be avoided or limited because it Adults With Cyanotic Congenital results in a reduced partial pressure of orlgen. Air trarel should be undertaken in pressurized aircrafts; supplemental oxygen Heart Disease may be beneflcial with prolonged air trarel. General Management All patients',tith Eisenmenger syndrome should undergo Right to left cardiac shunts, such as palliated or unrepaired TOF annual evaluation by a congenital cardiac specialist. Noncardiac and Eisenmenger syndrome, result in hypoxemia, erythrocltosis, surgery should be performed at centers with experts in

microdeletion (15'/" of patients) results in congenital sal (right to left shunting) caused by long standing. unre heart disease inheritance of approximately 507,. paired VSD. PDA. or ASD or another lesion. TTE evah.ration and o Indications for pulmonary valve replacement in patients appropriate intervention has decreased the frequency of' with repaired tetralogr of Fallot and severe pulmonary Eisenmenger syndrome, but PH related to complex CHD is regurgitation include syrnptoms, decreased exercise tol increasingly identifi ed. erance, more than moderate right heart enlargement. Consenative medical measures fbr patients with Eisen mild or moderate right or left heart dysfunction, arrhyth- menger syndrome include avoiding iron deficiency. dehldration. mias, and development of tricuspid regurgitation. acute exposure to excess heat, and moderate or severe strenuous or isometric exercise. Phlebotomy is rarely performed. Long term altitude exposure should be avoided or limited because it Adults With Cyanotic Congenital results in a reduced partial pressure of orlgen. Air trarel should be undertaken in pressurized aircrafts; supplemental oxygen Heart Disease may be beneflcial with prolonged air trarel. General Management All patients',tith Eisenmenger syndrome should undergo Right to left cardiac shunts, such as palliated or unrepaired TOF annual evaluation by a congenital cardiac specialist. Noncardiac and Eisenmenger syndrome, result in hypoxemia, erythrocltosis, surgery should be performed at centers with experts in 98

Diseases of the Aorta complex CHD. Patients with progressive cardiovascular symp TABLE 35" Causes of Thoracic Aortic Aneurysm toms may benefit from pulmonary vasodilator therapy or. in category Syndromes rare cases, heart and lung transplantation. Atherosclerosis Women with Eisenmenger syndrome should be cau tioned about the high risk for maternal mortality during Connective tissue Marfan syndrome d isorders pregnancy. Ehlers-Danlos syndrome type lV Loeys-Dietz syndrome rtI PortTS . In patients with cyanotic congenital heart disease, phle Ankylosi ng spondylitis botomy is recommended only for symptomatic hyper Other genetic Familial thoracic aortic aneurysm and and/or aortic dissection syndrome viscosity with a hemoglobin level greater than 20 g/dl congenital (200 g/L) and hematocrit greater than 65% in the absence Bicuspid aortic valve conditions ofdehydration; iron deficiency should be avoided. Turner syndrome

botomy is recommended only for symptomatic hyper Other genetic Familial thoracic aortic aneurysm and and/or aortic dissection syndrome viscosity with a hemoglobin level greater than 20 g/dl congenital (200 g/L) and hematocrit greater than 65% in the absence Bicuspid aortic valve conditions ofdehydration; iron deficiency should be avoided. Turner syndrome . Experienced cardiologists and anesthesiologists should Coarctation of the aorta manage patients with cyanotic congenital heart disease Vascu litis Takayasu arteritis who are undergoing surgery or invasive procedures; Giant cell arteritis these patients require endocarditis prophylaxis for non- Nonspecific (idiopath ic) aortitis sterile procedures, intravenous line filters to prevent air Other autoimmune conditions (BehEet embolism, and measures to prevent venous thrombo- syndrome, relapsing polychondritis, lgG4- embolism (early ambulation, pneumatic compression related disease) devices, and, occasionally, anticoagulation). lnfectious Septic embolism Direct bacterial inoculation Bacteremia

. Experienced cardiologists and anesthesiologists should Coarctation of the aorta manage patients with cyanotic congenital heart disease Vascu litis Takayasu arteritis who are undergoing surgery or invasive procedures; Giant cell arteritis these patients require endocarditis prophylaxis for non- Nonspecific (idiopath ic) aortitis sterile procedures, intravenous line filters to prevent air Other autoimmune conditions (BehEet embolism, and measures to prevent venous thrombo- syndrome, relapsing polychondritis, lgG4- embolism (early ambulation, pneumatic compression related disease) devices, and, occasionally, anticoagulation). lnfectious Septic embolism Direct bacterial inoculation Bacteremia Diseases of the Aorta Contiguous infection Syphilis lntroduction Aortic injury Prior acute aortic syndrome Diseases of the aorta comprise chronic conditions, such as Chest trauma thoracic and abdonrinal aortic aneurysms and aortic athero- mas, and potentially lii'e threatening acute conditions, such as aortic dissection and aneurysm rupture. Appropriate treat, or murmurs. Infrequently, dysphagia and hoarseness occur ment and surveillance of aortic disease are critical to prevent when an aneurysm compresses surrounding structures. If the ing disease progression, complications, and mortality. aneurysm ruptures, patients may have severe chest pain, back pain, sudden shortness ofbreath, or sudden death. A diastolic i heart murmur, wide pulse pressure, or symptoms ol heart fail Thoracic Aortic Aneu rysm ure may signal aorlic regurgitation, which olten occurs in com Thoracic aortic aneurysm (TAA) is defined as an increase in bination with TAA. the thoracic aortic diameter of greater than 50'1, relative to the expected or normal aortic dimension, which is influenced by Screening and Surveillance age, sex, and body type. TAAs may occur at the level of the Screening for abnormalities of the thoracic aorta with aortic aortic root, ascending aorta, aortic arch, or descending aorta. imaging is indicated in asymptomatic patients with a bicuspid Most commonly, they involve the aortic root and ascending aortic valve, a genetic condition that predisposes to aortic aorta, often forming at the site of aortic atherosclerosis. aneurysms and dissections (e.g., Marfan syndrome, Ehlers Common causes of TAA are summarrized in Table 35. TAAs Danlos syndrome), or a family history of TAA or aortic dissec are usually the result of cystic medial degeneration and weak tion. Screening is not recommended in other asymptomatic ening o1'the aortic wall due to loss of smooth muscle flbers and persons. elastic fiber degeneration. TAAs occurring in patients younger If TAA is identified, the aortic cross sectional area should than 50 years often are caused by connective tissue disorders, be determined using noninvasive imaging (Table 36). Aortic such as Marfan syndrome or Ehlers Danlos syndrome. diameter measurement often varies substantially depending Bicuspid aortic valve morphologr is an important risk factor on the type of imaging study used. Care must be taken to fbr TAA lbrmation, with TAA occurring in approximately 50'7, measure the dimension perpendicular to the long axis of the of patients with a bicuspid aortic valve. Other risk factors for aorta because oblique measurements may overestinlate the 'lAA include hypertension, smoking, and advanced age. true diameter. The maximum aortic diameter at the site of TAAs often are asymptomatic and detected incident:rlly aneurysm (measured in centimeters) generally is included in during echocardiographic evaluation of left ventricular function the criteria fbr surveillance and treatment.

Diseases of the Aorta Contiguous infection Syphilis lntroduction Aortic injury Prior acute aortic syndrome Diseases of the aorta comprise chronic conditions, such as Chest trauma thoracic and abdonrinal aortic aneurysms and aortic athero- mas, and potentially lii'e threatening acute conditions, such as aortic dissection and aneurysm rupture. Appropriate treat, or murmurs. Infrequently, dysphagia and hoarseness occur ment and surveillance of aortic disease are critical to prevent when an aneurysm compresses surrounding structures. If the ing disease progression, complications, and mortality. aneurysm ruptures, patients may have severe chest pain, back pain, sudden shortness ofbreath, or sudden death. A diastolic i heart murmur, wide pulse pressure, or symptoms ol heart fail Thoracic Aortic Aneu rysm ure may signal aorlic regurgitation, which olten occurs in com Thoracic aortic aneurysm (TAA) is defined as an increase in bination with TAA. the thoracic aortic diameter of greater than 50'1, relative to the expected or normal aortic dimension, which is influenced by Screening and Surveillance age, sex, and body type. TAAs may occur at the level of the Screening for abnormalities of the thoracic aorta with aortic aortic root, ascending aorta, aortic arch, or descending aorta. imaging is indicated in asymptomatic patients with a bicuspid Most commonly, they involve the aortic root and ascending aortic valve, a genetic condition that predisposes to aortic aorta, often forming at the site of aortic atherosclerosis. aneurysms and dissections (e.g., Marfan syndrome, Ehlers Common causes of TAA are summarrized in Table 35. TAAs Danlos syndrome), or a family history of TAA or aortic dissec are usually the result of cystic medial degeneration and weak tion. Screening is not recommended in other asymptomatic ening o1'the aortic wall due to loss of smooth muscle flbers and persons. elastic fiber degeneration. TAAs occurring in patients younger If TAA is identified, the aortic cross sectional area should than 50 years often are caused by connective tissue disorders, be determined using noninvasive imaging (Table 36). Aortic such as Marfan syndrome or Ehlers Danlos syndrome. diameter measurement often varies substantially depending Bicuspid aortic valve morphologr is an important risk factor on the type of imaging study used. Care must be taken to fbr TAA lbrmation, with TAA occurring in approximately 50'7, measure the dimension perpendicular to the long axis of the of patients with a bicuspid aortic valve. Other risk factors for aorta because oblique measurements may overestinlate the 'lAA include hypertension, smoking, and advanced age. true diameter. The maximum aortic diameter at the site of TAAs often are asymptomatic and detected incident:rlly aneurysm (measured in centimeters) generally is included in during echocardiographic evaluation of left ventricular function the criteria fbr surveillance and treatment. 99