Adult congenital heart disease

I. Problem/Condition.

Congenital heart disease (CHD) occurs in approximately 3-5 out of every 100 live births. Due to advances in pediatric cardiac surgery, there is now an increasing number of adults who have had surgery as infants or children. Over 85% of children with congenital heart disease survive to adulthood. There are estimated to be over 1 million adults in the United States with congenital heart disease and each year 20,000 new patients reach adolescence. This has led to the number of adults with CHD exceeding the number of children with CHD.

As children with congenital heart disease reach adulthood, clinicians will need to have multidisciplinary knowledge including aspects of cardiology, nephrology, hepatology, hematology, pulmonary, and reproductive /genetics. Adults with congenital heart disease often have a poor understanding of their disease and the importance for follow-up care.

The most common forms of congenital heart disease to discuss include atrial septal defect (including patent foramen ovale), ventricular septal defect, tetralogy of Fallot, coarctation of the aorta, Epstein’s anomaly, Eisenmenger’s syndrome, transposition of the great arteries, and idiopathic hypertrophic subaortic stenosis (IHSS).

II. Diagnostic Approach

A. What is the differential diagnosis for this problem?

Adults with congenital heart disease have signs and symptoms specific to the respective lesions. Persons with congenital heart disease may present with dyspnea on exertion, paroxysmal nocturnal dyspnea (PND), orthopnea, or palpitations.

Symptoms of volume overload may include dyspnea on exertion, PND, orthopnea, or palpitations.

Symptoms of arrhythmias include palpitations for greater than 10 seconds, syncope or presyncope, and associated chest pain or shortness of breath.

Signs and symptoms of congestive heart failure include PND, orthopnea, dyspnea, cough, and fatigue, as well as elevated jugular venous pressure, pulmonary crackles, cardiomegaly, S3, edema, arrhythmias, or embolic phenomena.

B. Describe a diagnostic approach/method to the patient with this problem

Adults with congenital heart disease (CHD) should have a thorough history and physical examination. An understanding of the congenital heart defect and the surgical procedures performed is important to predict further workup and evaluation.

Generally the history should include noting:

• Past symptoms and present symptoms
• Intercurrent events
• Changes in medications
• Changes in daily activities.

The physical examination should include:

• Bilateral upper extremity blood pressures
• Pulse oximetry if indicated
• Detailed cardiovascular exam and auscultation
• Lung exam to assess for wheezing, rales, and rhonchi
• Extremity exam to assess pulses and edema.

1. Historical information important in the diagnosis of this problem.

Atrial septal defect (ASD)/patent foramen ovale (PFO)

ASD can be asymptomatic in children and may not be diagnosed until adulthood. It is more common in females. Symptoms usually present in the fourth decade. Ostium secundum ASD is the most common type of ASD defect and represents the largest group of adults with untreated CHD. The other types of ASD include ostium primum defect, sinus venosus defect, and unroofed coronary sinus. Symptoms may include fatigue, reduced functional capacity, dyspnea on exertion, and palpitations (usually supraventricular tachyarrthymias). Less frequent symptoms include right heart failure and frequent pulmonary infections. In the third or fourth decade of life, later symptoms in patients with an ASD that is not closed include congestive heart failure (CHF), fatigue, dyspnea on exertion, recurrent pulmonary infections, increased pulmonary blood flow, pulmonary vascular disease, atrial arrhythmias, thrombosis of large pulmonary arteries, and strokes from paradoxical embolism. Eisenmenger’s syndrome rarely occurs.

Ventricular septal defect (VSD)

VSD is the most common CHD in infants and children, and it is usually diagnosed before adulthood. It is divided into four types depending on the location of the defect within the interventricular septum. Perimembranous is most common, with a smaller percentage in the muscular (membranous) septum. In these two sites, spontaneous closure is common. Supracristal VSD is common in Chinese and Japanese populations. In this type of VSD, the aortic valve cusp prolapses into the defect.

Symptoms are dependent on whether or not the VSD was operated on in childhood, whether or not there is residual VSD, and the presence of VSD and the degree of left-to-right shunt with or without left ventricular overload and pulmonary hypertension. Symptoms can range from no symptoms if the VSD is small to congestive heart failure and symptoms of shortness of breath, tachypnea, tachycardia, pallor, poor feeding with resultant poor weight gain, dyspnea on exertion (DOE), and fatigue if the VSD is larger. Arrhythmias can occur and complete heart block may be seen in older patients. Endocarditis has been reported. If Eisenmenger syndrome develops, the VSD cannot be safely closed.

Coarctation of the aorta

Coarctation of the aorta is a narrowing of the aorta just beyond the left subclavian artery and is usually located in the area where the ductus arteriosus inserts. Only rarely does it occur ectopically. Half of patients have a bicuspid aortic valve. It is more common in males. In females, there is an association with Turner syndrome. Severe obstruction will be seen in neonates with symptoms of metabolic acidosis and shock as the ductus arteriosus closes. Presentation can be delayed until adolescence, when symptoms may include heart murmur and hypertension. Other symptoms include headache, nosebleeds, dizziness, tinnitus, shortness of breath, abdominal angina, leg cramps, claudication, exertional leg fatigue, and cold feet. It may be associated with left heart failure, intracranial hemorrhage from berry aneurysm, infective endocarditis, aortic rupture or dissection, premature coronary artery disease, and premature cerebral artery disease

See also the chapter on coarctation of the aorta in the cardiology section of Decision Support in Medicine for further information.

Tetralogy of Fallot

Tetralogy of Fallot is the most common form of untreated cyanotic heart disease seen in adults with CHD. It accounts for approximately 10% of all complex CHD. This form of CHD is diagnosed during infancy. Tetralogy of Fallot involves four features: nonrestrictive VSD, subpulmonic stenosis causing right ventricular outflow tract obstruction (RVOTO), overriding aorta, and right ventricular hypertrophy (RVH). Overall, the long-term outcome into mid-adulthood is excellent, with estimated 20 year survival rates of over 90%.

Signs and symptoms are dependent on the severity of the RVOTO. In infancy, signs and symptoms include tachypnea, exertional dyspnea, and cyanosis. Due to right-to-left shunting at the ventricular level secondary to RVOTO, there is progressive cyanosis which can be profound with agitation (“tet spell”). These tet spells are characterized by tachypnea, hyperpnea, decrease in murmur intensity, and cyanosis followed in some cases by loss of consciousness, hypoxemia, seizure, cerebrovascular accident (CVA), and even death. Older children with these hypoxic spells will learn to squat to increase SVR and thus decrease the hypoxemia. Infants and children will have poor somatic growth. In adults, signs and symptoms include dyspnea, cyanosis, and decreased exercise tolerance or dyspnea on exertion. As a consequence of cyanosis, there is secondary erythrocytosis, hyperviscosity, abnormal hemostatsis, cerebral abscess or stroke, and endocarditis.

Classic complete repair generally occurs between 4 to 12 months of age and involves VSD closure and relief of the RVOTO by resecting the obstructing hypertrophied infundibular muscle, and repairing the pulmonic valve. Patching the pulmonary annular is rarely done due to the later development of pulmonary insufficiency. Survival rate following surgery is 85% at 30+ years.

In adulthood, there are several complications.

• Pulmonary regurgitation (PR) occurs following transannular patch repair. There may be associated distal pulmonary artery stenosis or rarely pulmonary artery hypertension (PAH). Chronic severe PR leads to right ventricular (RV) dilatation and dysfunction.
• Residual RVOTO occurs along the previous resection of the infundibulum and pulmonary valve.
• RV dilatation and dysfunction is due to PR with or without associated RVOTO. As a consequence of RV dilatation, tricuspid regurgitation (TR) may occur.
• Residual VSD can lead to left ventricular (LV) volume overload. The cause is usually due to incomplete closure at the time of surgery or partial patch dehiscence.
• Aortic root dilatation with aortic regurgitation (AR) is due to both cystic medial necrosis and increased flow.
• LV dysfunction is multifactorial and results from LV volume overload. It may be due to delayed repair, residual VSD, AR, or longstanding palliative shunts.
• Reduced lung function and reduced work capacity.
• Endocarditis, though is a rare occurrence.

Epstein’s anomaly

By definition, Epstein’s anomaly is characterized by an abnormal tricuspid valve in which there is an abnormally enlarged and sail-like anterior leaflet and an apically displaced septal and posterior leaflet. This causes a downward displacement of the tricuspid valve into the right ventricle. This leads to TR, atrialization of the right ventricle (part of the right ventricle is included in the right atrium), and concomitant anomalies. These anomalies include secundum ASD or PFO, VSD, pulmonary stenosis, pulmonary atresia, tetralogy of Fallot, coarctation of aorta, mitral valve disease, biventricular cardiomyopathy, and Wolff-Parkinson-White (WPW) syndrome.

Symptoms vary depending on the degree of the TR and the left-to-right shunting. Those with mild forms can be asymptomatic for decades. Those with more significant disease can present with fatigue, shortness of breath, chest pain, dyspnea of exertion, peripheral cyanosis or even central cyanosis, and arrhythmias including supraventricular tachycardia (SVT) if there is right to left shunting through the ASD.

Eisenmenger’s syndrome

By definition, Eisenmenger’s syndrome is a congenital heart disease with an initial large systemic to pulmonary shunt (left-to-right shunt), which causes severe pulmonary vascular disease and PAH resulting in a reversal of shunt direction and central cyanosis. It is seen in patients with ASD, VSD, or cyanotic defects. It is most common with VSD associated with PAH, right-to-left shunting, enlarged right ventricle, and cyanosis. Survival is decreased due to multi-organ involvement.

Symptoms include dyspnea on exertion, fatigue, central cyanosis, palpitations, syncope, and right heart failure. Symptoms of hyperviscosity occur including fatigue, headache, dizziness, visual disturbance, and paresthesias. Rare symptoms include hemoptysis, CVA, intracranial hemorrhage, or brain abscess. Patients usually do well until their third or fourth decade, with death due to CHF or sudden cardiac death (SCD) secondary to arrhythmias.

Transposition of the great arteries

D-transposition of the great arteries (d-TGA) is the most common type of cyanotic heart disease. In infants, immediate management includes maintenance of patent ductus arteriosus (PDA) patency by infusion of prostaglandin E and balloon atrial septostomy to create an atrial septal defect (Rashkind procedure). Internists will see patients after their surgical procedures.

Those with simple TGA—defined as the pulmonary artery (PA) arising posteriorly from the left ventricle and the aorta arising anteriorly from the right ventricle usually with an associated ASD, VSD, or PDA—will have had a Mustard or a Senning atrial switch. First performed by Senning then modified by Mustard, an atrial baffle or tunnel is created to direct venous return to the contralateral ventricle. In patients who have had a Mustard repair, RV dysfunction and TR can occur. The intra-atrial tunnels or baffles can shunt or can obstruct. This can lead to superior vena cava (SVC) obstruction, PAH, or hepatic congestion and hepatic cirrhosis. Arrhythmias can occur including atrial flutter, atrial fibrillation, ventricular tachycardia (VT), ventricular fibrillation (VF), and sinus node dysfunction and bradyarrhythmias.

Today, the preferred surgical treatment of choice is the arterial switch procedure, first performed by Jatene. This procedure not only involves moving the aorta and pulmonary artery to the appropriate atrioventricular (AV) valve but also detaching and implanting the coronary ostia. Patients who have had an arterial switch procedure may later develop LV dysfunction, aortic regurgitation (AR) or aortic stenosis (AS), supravalvular pulmonary stenosis, pulmonary branch stenosis, aortic root dilatation, myocardial ischemia, and arrhythmias.

Complex TGA is associated with other intracardiac lesions including VSD, left ventricular outflow tract obstruction (LVOTO), and coarctation of the aorta (CoA). Most adults with this congenital defect have had a Rastelli type repair. This involves the left ventricle connected through a VSD patch to the aorta and the right ventricle connected with a valved conduit to the pulmonary artery. Patients who has had this repair may have residual problems related to the valved conduit or to the residual VSD. If there is SVC obstruction, there may be signs of venous congestion in the upper half of the body. If there is obstruction of the systemic venous drainage, there may be signs of venous congestion in the lower half of the body. SVT, VT, and VF arrhythmias can occur.

IHSS

IHSS or hypertrophic cardiomyopathy is a specific form of hypertrophic obstructive cardiomyopathy. It is characterized by left ventricular hypertrophy (LVH) with abnormally thickened interventricular septum with or without left ventricular aortic outflow tract obstruction. Symptoms may be minor with slow progression of the disease. Signs and symptoms included chest pain, shortness of breath, dizziness, fatigue, hypertension, palpitations, lightheadedness with or after activity or exercise, fainting during exercise, and shortness of breath with lying down. There have been several medical advances for treatment including surgical septal myectomy, ICDs, and transplantation.

See also the chapter on IHSS in the cardiology section of Decision Support in Medicine for further information.

2. Physical Examination maneuvers that are likely to be useful in diagnosing the cause of this problem.

ASD/PFO

No murmur is produced across the ASD itself. On examination of the heart, there is a wide and fixed splitting of the second heart sound as well as a soft SEM at the LUSB due to increased blood flow across the pulmonary valve or a loud systolic pulmonary flow murmur secondary to increased pulmonary blood flow. There may be a tricuspid mid-diastolic rumble with the diastolic murmur due to blood flow across the TV. A right ventricular or pulmonary arterial impulse may be palpable in large ASD.

VSD

A very small VSD has a soft high-pitched systolic murmur located at the left lower sternal border.

A small or medium sized VSD has a hard holosystolic murmur over the third to fourth intercostal space and left lower sternal border. The LV impulse is laterally displaced. A precordial thrill may be palpated. A short mid-diastolic apical rumble across the MV may be heard if the left to right shunt is large.

A large VSD is soft and short with little or no murmur due to the high pulmonary vascular resistance of the right-to-left shunting. A right ventricular heave may be palpated. Eventually, a PR murmur (Graham Steel’s murmur) may be auscultated. If pulmonary hypertension is present, a loud single second heart sound is heard.

Coarctation of the aorta

Blood pressure differential (upper body systolic hypertension and lower body hypotension with blood pressure (BP) gradient greater than 20mgHg between both upper and at least 1 lower extremities); widened pulse pressure in the arms; decreased pulses and lower oxygen saturatin in the lower extremities. There is radial-femoral pulse delay and palpable collaterals in the scapula.

A suprasternal thrill may be felt.

Harsh systolic ejection murmur along the lower sternal border and in the back over the coarctation or a continuous systolic murmur due to collateral vessels may be heard in the back. Systolic ejection click may be heard secondary to bicuspid aortic valve.

Tetralogy of Fallot

Due to right-to-left shunting, may have cyanosis as well as digital clubbing.

On heart auscultation, widely split second heart sound along with any of the following:

• Low-pitched early-ending diastolic murmur at the LUSB with radiation to both axillae (severe PR)
• Long loud systolic ejection murmur (RVOTO)
• High-pitched diastolic murmur (AR)
• Aortic ejection click (overriding aorta)
• Pansystolic murmur (residual VSD).

RV lift or tap is palpable as well as a palpable systolic thrill.

If the RVOT obstruction is minimal, will present with mild cyanosis and signs of pulmonary congestion due to left to right shunting through the VSD with increase pulmonary blood flow.

Epstein’s anomaly

Signs and symptoms are dependent on the degree of shunting. On physical exam, heptomegaly and cyanosis. On cardiac auscultation, widely split first heart sound and widely split second heart sound. A systolic murmur due to TR may be heard. Serial clicks, S3, S4, and arrthymias may also be present.

Eisenmenger’s syndrome

Digital clubbing and cyanosis is dependent on the degree of right-to-left shunting.

Jugular venous pressure (JVP) may be normal or elevated and a v wave may be present (due to TR). There is no peripheral edema or hepatomegaly unless there is significant RV dysfunction.

Right parasternal heave reflects right ventricular hypertrophy (RVH).

There is a loud pulmonary component of S2. Other cardiac murmurs include decrescendo diastolic murmur (PR), holosystolic murmur (TR), and right-sided S4.

Patients present with reduced oxygen saturation. Erythocytosis develops. Thrombocytopenia may be present with patients at risk for bleeding as well as thrombosis. There is an increased frequency of parietal thrombosis of proximal pulmonary arteries, pulmonary infarctions, and peripheral embolization. CVA may occur.

Transposition of the great arteries

Initial exam may reveal single loud S2; RV impulse; or SEM if there is associated VSD and PS.

Signs and symptoms are dependent on the type of surgical procedure. Patients may present with signs of right heart failure in those that have undergone the atrial switch operation. Baffle-associated complications with the Mustard procedure include upper extremity edema, chylothorax, or facial plethora. Baffle-associated complications with the Senning procedure include pulmonary venous obstruction.

In adults, there may be systolic ejection murmur or TR murmur. In patients that have had the arterial switch operation, physical exam findings include AR and PS murmurs. In adults who have had complex TGA and undergone the Rastelli type of operation, clinical findings include mitral regurgitation (MR), TR, AR, residual VSD, or conduit stenosis.

IHSS

Cardiac exam may reveal a systolic ejection murmur, which is increased with maneuvers that decrease preload (valsalva, standing); the murmur is decreased with maneuvers that increase preload (squat) or increase afterload (handgrip). Other findings on exam included double apical impulse, paradoxical split S2, normal S1, S4 and sometimes S3, apical precordial impulse, and double carotid arterial pulse.

3. Laboratory, radiographic and other tests that are likely to be useful in diagnosing the cause of this problem.

Generally the following tests are useful in the diagnosis and management of adult CHD.

Electrocardiograms (EKG) are routinely obtained to assess chamber enlargement (ventricular hypertrophy) and to assess conduction abnormalities.

Pulse oximetry is routinely obtained to assess hypoxemia. In pregnant females with CHD, hypoxemia is associated with a high incidence of miscarriage.

Chest x-rays (CXR) are obtained when clinically indicated but is not routine. It may be helpful for information regarding heart size and to assess pulmonary vascularization.

Transthoracic echocardiogram is a noninvasive procedure used to define postoperative residual lesions, postoperative stents and baffles. It can be used to assess the cardiac anatomy, chamber pressures and function. Transesophageal echocardiogram provides improved visualization of the cardiac chambers and structures.

Right and left heart catheterization is indicated for patients over 40 years of age, postmenopausal females, and patients with sign or risks factors for coronary artery disease (CAD). It can be useful to assess the performance of various cardiac surgical procedures, such as valvuloplasty, angioplasty, and VSD or ASD closure. It is useful in the assessment of PAH and testing of vasoreactivity.

Exercise stress tests are useful to assess functional ability, exercise capacity, blood pressure response, and ventilation efficiency. They are also useful to assess exercise-induced arrhythmias.

Cardiac magnetic resonance imaging (MRI) provides three dimensional anatomical reconstruction. This is superior to echocardiogram for evaluating and quantifying PR, RVOTO and right ventricle to pulmonary artery conduits, RV volumes and right ventricular ejection fractions (RVEF), aorta, pulmonary artery and systemic pulmonary veins, myocardial mass, and fibrosis.

Cardiac computed tomography (CT) is an alternative when cardiac MRI is contraindicated. It is useful to assess AV malformations and collaterals, coronary anomalies, and intra and extra cardiac masses.

Holter monitoring, event recorder and electrophysiology (EP) study is indicated when arrhythmias are suspected.

C. Criteria for Diagnosing Each Diagnosis in the Method Above.

ASD/PFO

EKG may be normal in small ASD. In large ASD, EKG shows right axis deviation (left axis deviation in ostium primum defects and partial atrioventricular septal defect) and incomplete right bundle branch block (RBBB). Later in life, atrial arrhythmias may occur including atrial fibrillation and SVT.

CXR may be normal in small ASD. In larger ASD, CXR may show cardiomegaly, increased pulmonary arterial marking, and increased peripheral pulmonary vascular pattern.

An echocardiogram is the primary diagnostic test which will assess for right atrium (RA) and RV dilatation, right ventricular volume overload, pulmonary artery pressure and tricuspid regurgitation. A transesophageal echocardiogram (TEE) is required for sinus venous defects and for secundum defects before closure.

Cardiac MRI (CMR) and CT scans may be necessary to assess right ventricular volume overload and pulmonary venous connection. If the pulmonary artery pressure (PAP) is high, cardiac catheterization is required to determine the degree and direction of shunting, pulmonary vascular resistance, and presence of PAH.

VSD

The direction and magnitude of the shunt are determined by the size of the defect, LV and RV systolic and diastolic function, the peripheral vascular resistance (PVR), and the presence or absence of RVOTO.

With a small defect, EKG and CXR are normal. In a larger defect, EKG may show left atrial enlargement, and LVH. The CXR may show evidence of “shunt vascularity” and LVH. With the development of PAH, the EKG may show QRS axis shift to the right, right atrial enlargement, and RVH. Inlet type VSDs will show left axis deviation (LAD).

The echocardiogram is the primary diagnostic test to assess the location and size of the defect as well as to assess PAP and LV volume overload. Color Doppler flow demonstrates the magnitude and direction of shunting.

If supracristal VSD or high perimembranous VSD, the aortic valve needs to be assessed for aortic valve prolapse or AR. Double chambered RV is associated with membraneous VSD and must be excluded.

Cardiac MRI may be necessary to assess LV volume overload and shunt evaluation. If the PAP is high, cardiac catheterization is required to determine PVR and the magnitude of the shunting.

Coarctation of the aorta

EKG shows LVH. Note that in infant, EKG will show RVH due to PDA.

CXR may show rib notching of the posterior third and fourth to eighth rib from collaterals. Other chest x-ray findings include ectatic ascending aorta, figure 3 sign (nicking or double contouring in the descending aorta due to prestenotic and poststenotic dilatation of the aorta), and widening of the left subclavian artery.

Cardiac CT is preferred to evaluate the aorta and provides detail regarding the location and length of the coarctation. Cardiac MRI is an alternative. Echocardiogram is not as useful to quantify the coarctation.

Cardiac catheterization is recommended to assess the severity of PAH and the magnitude of the shunting.

Tetralogy of Fallot

Pulse oximetry will confirm oxygen saturation. Bloodwork may show erythrocytosis proportional to the degree of desaturation.

EKG shows right axis deviation, RVH, and complete RBBB with widened QRS, which is reflective of the degree of RV dilation. QRS greater than 180ms is risk factor for VT or sudden cardiac death (SCD).

Usually CXR is normal except for decreased pulmonary vascular markings. In less 25% the CXR may show a “boot-shaped” heart due to an upturned RV apex and concave main pulmonary arterial segment. Lung markings are diminished.

Echocardiogram is the initial test of choice to assess residual VSD, residual RVOTO and PR, TR, aortic root size, AR, RV and LV size and function, and RVP. Color Doppler will demonstrate the right-to-left shunting and severity of the RVOTO.

Cardiac MRI is the preferred test to assess RV volume and function, PA details, PR, and ascending aorta. In patients with widened QRS, gadolinium enhancement is used to look for fibrosis. CT is an alternative in patients with pacemakers or implantable cardioverter-defibrillators (ICDs).

Cardiac catheterization can confirm the diagnosis as well as determine the degree of right-to-left shunting and the severity of the RVOTO, and provide an assessment of the coronary arteries.

Holter monitoring, event recording and EP testing is recommended in patients with suspected arrhythmia, and in those patients being re-evaluated for RVOT reoperation. ICD implantation is required for secondary prevention of SCD in those patients with sustained VT or cardiac arrest. Other indications for ICD include unexplained syncope, impaired ventricular function, extensive ventricular fibrosis, and inducible VT.

Epstein’s anomaly

EKG may show RA hypertrophy, tall and broad P waves in lead II, RBBB, prolonged PR (first degree AV block), splintered QRS, deep Q in II, III, aVF, V1-V4, low voltage, arrhythmias (pre-excitation syndrome with WPW syndrome, supraventricular and ventricular arrhythmias).

CXR may be useful to assess heart size and demonstrate a large RA (prominent right-sided border) and decreased pulmonary vascular markings.

Echocardiogram is useful to provide information of the tricuspid valve and assessment of the apical distal displacement of the septal and posterior leaflets, the size of the anterior leaflet, the size and function of the right atrium and right ventricle, and an assessment of any associated lesions including the presence of ASD/PFO.

Cardiac MRI is useful to assess the right ventricle and right atrium size and function and to assess the TR prior to any surgical intervention.

EP study is indicated in individuals with atrial tachyarrhythmias.

Eisenmenger’s syndrome

EKG shows RVH. Atrial arrhythmias may be present.

CXR shows decreased peripheral vascular markings and prominent central pulmonary arteries.

Echocardiogram may reveal PAH with elevated RVP. The location and degree of shunting may be difficult to determine with color Doppler. However, contrast echocardiography may be able to localize the shunt.

Cardiac catheterization is recommended to assess the severity of PAH and the magnitude of the shunting.

Transposition of the great arteries

EKG may show RVH with narrow complex QRS. Arrhythmias include atrial flutter and SVT.

In patients with atrial switch procedure, echocardiograms are helpful to assess for outflow tract obstruction, to determine RV and LV size and function, TR, and to assess for baffle leakage. Cardiac MRI or CT is used to asses RV function and assess the patency of the atrial baffles. Cardiopulmonary exercise testing can evaluate for arrhythmias and unmask baffle leakage. If there is evidence of arrhythmias, further evaluation including holter monitoring, event recorder and EP testing is required. Cardiac catheterization is reserved for patients with inconclusive noninvasive testing and for assessment of PAH.

In patients with arterial switch operation, echocardiograms provide information related to LV size and function, and can assess the PV and aortic arch. Stress echo is useful to detect myocardial ischemia and LV dysfunction. Cardiac MRI or CT can provide information regarding the coronary arteries, aorta, and pulmonary arteries. If there is suspected pulmonary branch stenosis, a nuclear medicine pulmonary perfusion test is recommended. Cardiac catheterization is reserved in cases of LV dysfunction or concerns of myocardial ischemia as well as evaluation of severe pulmonary branch stenosis.

In patients with complex TGA who have undergone the Rastelli type of operation, echocardiograms provide information of LV and RV function, an assessment of the RV and pulmonary trunk conduit, and the LV and aortic valve patch. Residual VSD and assessment of conduit stenosis may be difficult to assess. Cardiac MRI can be used to assess not only LV and RV function but also conduits and semilunar valves and residual VSD. Cardiac catheterization is reserved for assessment of conduit stenosis.

IHSS

Echocardiogram and cardiac MRI are useful for assessment.

D. Over-utilized or “wasted” diagnostic tests associated with the evaluation of this problem.

A chest x-ray is not routinely required. It is obtained when clinically indicated, such as to assess heart size and pulmonary vascularization. Laboratory tests are not routinely required.

III. Management while the Diagnostic Process is Proceeding

A. Management of adult congenital heart disease

ASD/PFO

Surgical repair of an ASD/PFO is recommended. The outcome is best in patients less than 25 years old, but patients of any age benefit from closure with regard to morbidity. Patients of advanced age with ASD and comorbidities must weigh the risks and benefits of ASD closure. Surgery is not recommended in patients with PAH and irreversible pulmonary vascular disease.

The preferred intervention is by catheter intervention. There are similar success rates and mortality between surgery and catheter intervention. However, length of stay and morbidity is lower with catheter intervention. Percutaneous device closure is preferred in patients with secundum defect. Antiplatelet therapy is required for at least 6 months (minimum acetylsalicylic acid (ASA) 162mg daily).

Cryo and radiofrequency ablation (modified maze procedure) should be done at the time of surgery in patients with atrial flutter or atrial fibrillation. Follow-up evaluation includes assessing for occurrence of tachyarrhythmias including intra-atrial reentrant tachycardia, atrial flutter, or atrial fibrillation. Anticoagulation is indicated for atrial fibrillation or atrial flutter. Patient assessment should include residual shunt, tricuspid regurgitation, pulmonary artery pressure, and right ventricular size and function.

Infective endocarditis prophylaxis is recommended for 6 months after device closure, and in those individuals with associated valvular abnormality. No restrictions on exercise or sports are required for patients without pulmonary artery hypertension (PAH), right ventricular dysfunction, or significant arrhythmia. PAH patients are limited to low intensity recreational activities. Pregnancy risk is low in patients without pulmonary hypertension.

VSD

Spontaneous closure is frequent, most often in muscular/trabecular and perimembranous defects. Surgery is not indicated if the VSD is small, if the VSD is not subarterial, if there is no PAH or LV volume overload, and if there is no history of infective endocarditis. Adults with small VSD defects and normal PAP are usually asymptomatic. Surgery is usually not required but infective endocarditis prophylaxis is recommended.

Larger symptomatic VSDs respond to digoxin, diuretics, afterload reduction, and normal hemoglobin. Those patients who fail medical therapy will proceed to surgical closure. In these adults with larger defects, surgical closure with a pericardial patch is the treatment of choice. Transcatheter closure can be an alternative, especially in patients with increased risk factors for surgery. VSDs associated with AR (due to prolapse of AV cusp) or associated with increase pulmonary blood flow, initially may require diuresis and addressing caloric intake. The defect is then closed surgically or via transcatheter closure. Large VSD are usually closed at 6-9 months of age. However, VSD associated with failure to thrive (FTT) and increased pulmonary blood flow are closed at 1-4 months of age. Surgery should be avoided in Eisenmenger VSD, high pulmonary vascular obstructive disease, or in the presence of exercise-induced desaturation.

Follow-up evaluation includes assessment for development of AR or TR, LV dysfunction, PAP elevation, and AV block. Infective endocarditis prophylaxis is recommended for high risk patients. No restrictions on sports are required for patients without PAH, arrhythmias or LV dysfunction. PAH patients should be limited to low-intensity recreational activities. Pregnancy risk is low in patients with pulmonary hypertension. Pregnancy is contraindicated in Eisenmenger’s syndrome.

Coarctation of the aorta

Complications of coarctation of the aorta include aortic dissection, CAD, CVA, and heart failure. Surgical repair, either with end-to-end anastomosis or widening of the coarctation with a proximal left subclavian artery flap, or by stenting is usually the treatment of choice. Balloon dilatation is associated with a higher incidence of aortic aneurysm and recurrent coarctation. Recurrence is higher in neonatal repair. Angioplasty, with or without stenting, is indicated for recurring or residual coarctation of aorta. Associated problems may also require intervention, such as AV stenosis, AV regurgitation, aneurysm of ascending aorta or aneurysm at previous coarctation site, and Circle of Willis aneurysms. As noted previously, Coarctation of aorta is associated with increased risk of premature CAD, MI, systemic HTN, and premature cerebral artery disease or stroke.

Infective endocarditis prophylaxis is recommended for high risk patients. No restrictions on exercise or sports are required with the exception of competitive static sports in patients who have no residual obstruction and are normotensive. Most women tolerate pregnancy after repair of coarctation of aorta with the exception of those women with arterial hypertension, residual coarctation, or aortic aneurysm. There is a higher incidence of aortic dissection during pregnancy.

Tetralogy of Fallot

Initially in the neonatal period, infants with severe hypoxia will receive prostaglandin E1 in order to reopen/maintain the PDA and increase pulmonary blood flow. If unsuccessful and hypoxemia persists, modified Blalock-Taussig shunt (i.e. systemic to PA graft) is performed. Definitive surgery if then performed at approximately 3 months of age or if progressive cyanosis develops.

As mentioned previously, the most common surgical intervention is patch closure of the VSD along with relief of RVOTO. The optimal timing is in patients without heart failure and those with an end diastolic volume index of less than 160ml/min. Distal PA stenosis, residual VSD, AR, and aortic root dilation should be addressed at the time of surgery.

Arrhythmias include atrial tachycardia, atrial fibrillation, VT, and, rarely, complete heart block. A pacemaker is indicated in patients with complete heart block. Prophylactic antiarrhythmic shave not been useful. ICD implantation is recommended for secondary prevention of SCD in those patients with sustained VT or cardiac arrest.

Annual cardiac follow-up is recommended. Focus should be concentrated on the late complications of tetralogy of Fallot repair including PR, residual RVOTO, RV dilatation, residual VSD with LV volume overload, aortic root dilatation, and arrhythmias. An echocardiogram should be performed annually as well as cardiac MRI.

The most significant issue is PR with RV dilation. If severe, it can result in RV volume overload and arrhythmias. Symptoms include DOE, palpitations, syncope, and right heart failure (increased JVP, peripheral edema, ascites, hepatomegaly). Indications for reintervention of tetralogy of Fallot include symptoms of right heart failure, RV enlargement or dysfunction, progressive aneurysmal dilation of RVOT, TR, residual VSD, PS, dilated aortic root, or aortic insufficiency with LV dysfunction. Surgical correction necessitates homograft or prosthetic pulmonary valve replacement. Percutaneous PV replacement may be an alternative.

Infective endocarditis prophylaxis is recommended in high risk patients. For asymptomatic patients, there is no restriction on exercise or sports. Patients with arrhythmias, biventricular dysfunction, or aortic root dilation should avoid isometric exercise and should limit exercise to low-intensity activities or sports. The risk of pregnancy is dependent on the LV hemodynamics and the significance of residual lesions.

Epstein’s anomaly

Predictors of outcome include New York Heart Association (NYHA) functional status, heart size, presence or absence of cyanosis, and presence or absence of arrhythmias. Those with minimal TR and mild cardiomegaly usually do not need surgery and lead normal lives. Patients with ASD or PFO are at risk of paroxysmal embolization, brain abscess, or death. Paroxysmal atrial tachycardia may cause CHF, cyanosis, and syncope. Heart failure is treated with diuretics and digoxin. Surgical repair is indicated for patients with moderate TR, progressive right heart dilation, and progressive symptoms. Tricuspid valve (TV) repair, rather than TV replacement, is preferred and consists of creating a monocusp valve. Additionally, resection of the RA, ASD/PFO closure, and ablation of the arrhythmogenic foci is usually indicated. In patients with severe biventricular dysfunction, heart transplantation may be considered.

Atrial arrhythmia are treated pharmacologically or with catheter ablation. EP studies are indicated in patients with arrhythmias followed by ablation. There is a high risk of reoccurrence. Oral anticoagulation is recommended in patients with atrial fibrillation, paradoxical embolization, or right-to-left shunt.

Annual cardiac follow-up is recommended with specific attention to assessment of TR, RV and LV function, residual atrial shunts, and arrhythmias. Those patients with residual disease can lead normally active lives. Most patients should avoid heavy isometric exercises and competitive static sports. Infective endocarditis prophylaxis is recommended for high risk patients. Pregnancy can carry a higher risk in those patients with RV failure, arrhythmia, cyanosis, and paradoxical embolus.

Eisenmenger’s syndrome

Oral anticoagulation should be considered in patients with PA thrombosis and atrial fibrillation. However, patients with evidence of hemorrhagic diathesis should avoid anticoagulation and antiplatelet agents. In patients with severe bleeding, platelet transfusions, fresh frozen plasma (FFP), vitamin K, cryoprecipitate, and desmopressin can be used. Phlebotomy with fluid replacement and iron supplementation should be utilized in patients with secondary erythrocytosis. Hyperuricemia and gouty arthritis can be treated with colchicine, probenecid, or sulfinpyrazone; allopurinol can be used for prophylaxis.

There are three classes of drugs used to treat idiopathic PAH and PAH associated with connective tissue disease. Further studies are needed to extrapolate the data for patients with Eisenmenger’s syndrome. At this time, there is some data to support the use of the endothelin receptor antagonist (ERA) bosentan for patients with Eisenmenger’s syndrome. The other ERAs, phosphodiesterase type 5 inhibitors (sildenafil, tadalafil) and prostanoids may be considered but further studies are needed.

Patients with moderate-to-severe symptoms of hyperviscosity should be considered for phlebotomy with isovolumic replacement. Extreme exertion, high altitude, intravascular volume depletion, and vasodilators should be avoided. Pregnancy is discouraged due to the high risk of maternal and fetal morbidity and mortality.

Surgical repair is contraindicated in patients with advanced PAH. Closure of the defect is dangerous due to the increased risk of RV hypertension, RV failure, or fatal arrhythmias. Creation of an atrial opening may benefit a few. Patients with a poor prognosis include those with RV systolic dysfunction, low cardiac output, syncope, and severe hypoxemia. Combined heart-lung transplantation or lung transplantation with repair of the cardiac defect is an option in patients with advanced heart failure and poor prognosis. Death is usually due to arrhythmias. Other causes of death include heart failure, hemoptysis, stroke, or brain abscess.

Transposition of the great arteries

In patients who have had the atrial switch operation, diuretics and digoxin are recommended medical treatment. Valve repair or replacement is indicated in patients with severe TR with preserved RV function or vena caval obstruction. Catheter intervention with stenting should be performed in patients with symptomatic baffle stenosis or leaks.

Indications for intervention in patients who have had the arterial switch operation includes significant PA stenosis and coronary artery obstruction, and involves surgical repair of RVOTO. Stenting or surgery should be performed on coronary artery stenosis.

In patients who have had the Rastelli type of operation, surgical repair of the stenosis on the LV and aortic valve connection is indicated. Residual VSD with left-to-right shunt and symptoms of LV volume overload should be considered for repair.

Pacemaker insertion is recommended for symptomatic bradycardias. Prior to insertion, assessment of the baffle for leaks or stenosis should be performed. ICDs are indicated in patients with sustained ventricular tachyarrhythmias, unexplained syncope, or resuscitated from SCD.

Infective endocarditis prophylaxis is recommended for high-risk patients. Extreme exertion or competitive sports should be avoided. Low-to-medium intensity physical activity is encouraged. Physical activity in patients with a history of arrhythmias should be individualized. The risk of miscarriage, premature delivery, and fetal growth retardation is higher in females with TGA.

IHSS

It is important for patients with IHSS to avoid dehydration, which causes a decrease in stroke volume and an increase in the left ventricle outflow gradient. Volume depletion can lead to hypotension, lightheadedness, and syncope. Competitive sports and intense exercise should be avoided. The most common cause of death for most patients is advanced heart failure.

Medications used include beta-blockers and calcium channel blockers.

Alcohol septal ablation or septal myomectomy surgery may be needed in patients that fail medical management. ICDs are indicated in high-risk patients such as those with syncope, arrhythmias or a family history of SCD. In a minority of patients, heart transplantation or other supportive mechanical therapies may be indicated.

Complications of septal resection (Morrow operation) includes creation of VSD, aortic valve injury, residual systolic anterior motion the MV (SAM) or heart block. Transatrial septal myectomy via robotic technique has been performed with reduction of SAM and less aortic outflow tract gradient.

B. Common Pitfalls and Side-Effects of Management of this Clinical Problem

*Heart failure

Left ventricular heart failure is seen in patients with Tetralogy of Fallot and Ebstein malformation of Tricuspid valve. There is limited data specific to congenital heart disease in the treatment of heart failure. This is especially true in patients with TGA with atrial switch repair or a Fontan circulation. Most common medications include diuretics and digoxin.

*Arrhythmias

Arrhythmias are the main reason for hospitalization and this is hypothesized to be due to an already abnormal underlying circulation. This may be a sign of hemodynamic decompensation. Arrhythmias are seen in Ebstein’s anomaly, transposition of the great arteries, and tetralogy of Fallot. Supraventricular arrhythmias occur more frequently than ventricular arrhythmias.

The most common tachyarrhythmia is intra-atrial re-entry tachycardia (IART). Atrial arrhythmias are common in patients with Fontan procedure. The choice of pharmacologic treatment for IART or atrial fibrillation must take into consideration the type of CHD surgery, conduction abnormality, ventricular dysfunction, and other comorbidities.

RBBB is seen as postoperative sequela especially in patients following repair of Tetralogy of Fallot, VSD, AV septal defects, and Epstein malformations of AV.

Ventricular arrhythmias are the most common cause of death.

Catheter ablation is indicated for symptomatic tachyarrhythmias since antiarrhythmic medications are poorly tolerated due to the negative iontropic effects and other side effects. However, success rates are lower than in the general population. Pacing is difficult due to access and the anatomy itself. The risk of SCD is highest in tetralogy of Fallot, transposition of the great arteries (TGA), congenitally corrected TGA, AS, and univentricular heart. ICD implantation is indicated in survivors of cardiac arrest, undefined syncope, and persistent VT.

*Cyanosis/hypoxemia

Cyanosis leads to hyperviscosity syndrome, polycythemia, iron deficiency, thrombocytopenia and abnormal platelet function, and clotting factor deficiencies. Hyperuricemia can cause gout. Proteinuria and decreased glomerular filtration rate may occur. Left-to-right shunts predispose to pulmonary infections. There is reduced ability to increase cardiac output in response to exercise or stress leading to increased risk for myocardial ischemia and fibrosis.

*Pulmonary hypertension

Early surgical intervention of congenital heart defects is aimed at preventing the development of PAH. In those patients with PAH who must have surgery, care must be taken preoperatively to avoid hypoxemia, hypercapnia, acidosis, atelectasis, hyperinflation, and reflex pulmonary vasoconstriction. There has been recent interest in the use of nitrous oxide.

*Surgery

Surgery may be needed in patients who have had a prior repair but now present with residual or new hemodynamic complications. Surgery is also indicated in patients with newly diagnosed congenital heart disease or those with congenital heart disease initially not considered severe enough to warrant surgery. Research into heart/lung transplantation and xenotransplantation is ongoing.

*Catheter intervention

Interventional catheterization including stenting of systemic or pulmonary vessels as well as percutaneous valve implantation may be indicated.

*Endocarditis prophylaxis

Endocarditis prophylaxis is not recommended for respiratory tract, gastrointestinal, genitourinary, dermatological or musculoskeletal procedures unless there is an established infection.

Endocarditis prophylaxis is recommended for dental procedures in patients with prosthetic valve or prosthetic material used for cardiac valve repair, patients with previous history of infective endocarditis, and patients with CHD meeting one of the following conditions:

• Cyanotic CHD without surgical repair or with residual defects, palliative shunts, or conduits
• CHD after repair with prosthetic material (surgery or percutaneous) up to 6 months after the procedure
• A residual defect persists at the site of implantation of a prosthetic material or device (surgery or percutaneous)

*Thromboprophylaxis

Therapeutic anticoagulation is recommended prior to cardioversion. Alternatively, TEE can be performed.

Patients with severe complex CHD and IART or AF as well as those with moderate CHD, should receive long-term oral anticoagulation. Per current guidelines, there is insufficient evidence to recommend newer oral anticoagulant medications (ie dabigatran, rivoraxaban, apixaban, or edoxaban) for those with moderate or severe complex CHD and/or Fontan surgery.

List of reference medications

• ASA 81-325mg daily
• Warfarin—titrated to therapeutic international normalized ratio (INR)
• Digoxin 0.125-0.25mg daily.
• Furosemide 10-40 mg daily—titrated to net negative urine output of 500ml daily
• Sildenafil—consultation with expert is recommended; initial dose 25mg every 6-8 hours; in severe cases, doses up to 100mg five times daily have been used
• Bosentan—consultation with expert is recommended; noted to have significant side effects; initial dose 62.5mg twice a day; titrated after 4 weeks to 125mg twice a day

Oral infective endocarditis prophylaxis antibiotics for dental procedures:

• Amoxicillin 2g 1 hour before procedure
• Clindamycin 600mg 1 hour before procedure
• Azithromycin or clarithromycin 500mg 1 hour before procedure
• Cephalexin 2g 1 hour before procedure

Parenteral infective endocarditis prophylaxis antibiotics for dental procedures:

• Ampicillin 2g intramuscularly (IM) or intravenously (IV) 30 minutes before procedure
• Clindamycin 600mg IV 1 hour before procedure
• Cefazolin or Ceftriaxone 1g IV 30 minutes before procedure

IV. What’s the evidence?

Williams, R, Pearson, G, Barst, R, Child, J, Del Nido, P, Gersony, W, Kuehl, K, Landzberg, M, Myerson, M, Neish, S. “Report of the National Heart, Lung, and Blood Institute Working Group on Research in Adult Congenital Heart Disease”. . vol. 47. 2006. pp. 701-707.

Warnes, CA, Williams, RG, Bashore, TM. “ACC/AHA 2008 Guidelines for the Management of Adults With Congenital Heart Disease: A Report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital Heart Disease) Developed in Collaboration With the American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography and Interventions, and”. . vol. 52. 2008. pp. e143-e263.

Silversides, CK, Marelli, A, Beauchesne, L, Dore, A, Kiess, M, Salehian, O, Bradley, T, Colman, J, Connelly, M, Harris, L, Khairy, P. “Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: executive summary”. . vol. 26. 2010. pp. 143-50.

Khairy, P. “PACES/HRS Expert Consensus Statement on Arrthymias in Adult Congenital Heart Disease”. ogy. vol. 30. 2014. pp. e1-e63.

Driscoll, D. “Fundamentals of Pediatric Cardiology”. 2006. pp. 73-88.

Al-Kashkari, W, Balan, P, Kavinsky, CJ, Cao, QL, Hijazi, ZM. “Percutaneous closure of congenital and iatrogenic ventricular septal defects in adult patients”. . vol. 77. Feb 1, 2011. pp. 260-7.

Gatzoulis, MA, Alonso-Gonzalez, R, Beghett, M. “Pulmonary arterial hypertension in paediatric and adult patients with congenital heart disease”. . vol. 18. Sep 1, 2009. pp. 154-61.

Attenhofer Jost, CH, Connolly, HM, Burkhart, HM, Scott, CG, Dearani, JA, Carroll, AJ, Tajik, AJ. “Tetralogy of Fallot repair in patients 40 years or older”. . vol. 85. Dec, 2010. pp. 1090-4.

Brickner, ME, Hillis, LD, Lange, RA. “Congenital heart disease in adults. First of two parts”. . vol. 342. Jan 27, 2000. pp. 256-263.

Kammeraad, JA, vanDeurzen, CH, Sreeram, N, Bink-Boelkens, MT, Ottenkamp, J, Helbing, WA, Lam, J, Sobotka-Plojhar, MA, Daniels, O, Balaji, S. “Predictors of sudden cardiac death after Mustard or Senning repair for transposition of the great arteries”. . vol. 44. 2004. pp. 1095-102.

Dearani, JA, Connolly, HM, Martinez, R, Fontanet, H, Webb, GD. “Caring for adults with congenital cardiac disease: successes and challenges for 2007 and beyond”. . vol. 17. Sep, 2007. pp. 87-96.

Baumgartner, H, Bonheoffer, P, DeGroot, N. “The Task Force on the Management of Grown-up Congenital Heart Disease of the European Society of Cardiolog. ESC Guidelines for the management of grown-up congenital heart disease (new version 2010)”. . vol. 31. 2010. pp. 2915-2957.

Brickner, ME, Hillis, LD, Lange, RA. “Congenital heart disease in adults. Second of two parts”. . vol. 342. Feb 3 2000. pp. 334-342.

Spirito, P. “The Dawn of a Better Day for Patients with Hypertrophic Cardiomyopathy”. . vol. 65. 2015. pp. 1929-1930.

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