Tuesday, April 6, 2021

Adult Congenital Heart Disease Case File

Posted By: Medical Group - 4/06/2021 Post Author : Medical Group Post Date : Tuesday, April 6, 2021 Post Time : 4/06/2021
Adult Congenital Heart Disease Case File
Eugene C. Toy, Md, Michael d . Faulx, Md

Case 26
A 30-year-old woman presents with 6 months of progressive dyspnea, orthopnea, and fatigue. Her medical history is remarkable for “being born with a bad heart” that required surgery shortly after birth, but she cannot provide additional details. Her surgery was performed in another state, and she has no records. She denies other medical history and takes no medications. The patient does not use tobacco, alcohol, or illicit drugs. Her family history is unremarkable. Her vital signs are as follows: blood pressure 105/80 mmHg, heart rate 100 bpm, respiratory rate 16 breaths/ min, BMI 22 kg/m2, and room air oximetry 92%. She is a thin, well-appearing woman with a healed sternotomy scar. She has an 8-cm JVD at 45° and III/VI holosystolic murmur at the left sternal border with an S3 gallop. Her PMI is not displaced. She has coarse rales in the lung bases, and her legs are warm with 1+ pitting edema. Her ECG reveals sinus rhythm with a complete right bundle branch block. Her chest x-ray shows a prior median sternotomy with interstitial edema, bilateral pleural effusions, and cardiomegaly. Her technically difficult echocardiogram reveals normal left ventricular size and systolic function with a competent mitral valve. The right ventricle is poorly visualized because of artifact and narrow rib spaces; there appears to be some degree of tricuspid regurgitation with a continuous Doppler flow signal near the great vessels from an uncertain source.
  • What is your most likely diagnosis?
  • What is the best next diagnostic step?
  • What is the best next step in treatment?

Answer to Case 26:
Adult Congenital Heart Disease

Summary: This patient presents with signs and symptoms of decompensated heart failure. Her exam suggests tricuspid regurgitation and biventricular failure, but her left ventricle is normal by echocardiography. Her right ventricle is not well seen. This patient has obviously had open-heart surgery to address congenital heart disease, but the precise nature of her congenital heart problem and its repair is unknown. In cases such as this, cardiac MRI can be helpful since it can provide both anatomic and functional information that may impact management. Conventional medical therapy for heart failure is a reasonable first step.
  • Most likely diagnosis: Heart failure in a patient with surgically managed complex congenital heart disease.
  • Next diagnostic step: Cardiac MRI.
  • Next step in treatment: Careful titration of medical heart failure therapy
ANALYSIS

Objectives
  1. To learn the epidemiology of adult congenital heart disease.
  2. To understand the pathophysiology of common adult congenital heart diseases.
  3. To recognize the presentation of congenital heart disease in adults.
  4. To appreciate the consequences of untreated congenital heart disease in adults.
Considerations
This patient has a history of complex congenital heart disease that was surgically managed in childhood, and she is presenting in adulthood with heart failure. This scenario is becoming increasingly common in adult cardiovascular medicine, and it poses a major challenge to providers because patients often have any specific knowledge of their original disease or how it was addressed.

Approach To:
Adult Congenital Heart Disease

DEFINITIONS

Congenital Heart Disease: Abnormality of the structure and function of the heart and/or great vessels that are present at birth. Congenital heart diseases can arise from genetic causes and in utero exposures.

Shunt fraction: Qp/Qs; the ratio of pulmonary to systemic blood flow used to assess the severity of intracardiac shunts. Qp/Qs can be assessed by Doppler echocardiography, invasive oximetry, or cardiac MRI.

Cya notic heart disease: Subtype of congenital heart disease where deoxygenated blood bypasses the lungs and enters the systemic circulation. Examples include tetralogy of Fallot, D-transposition of the great arteries, and Eisenmenger syndrome.

Eisenmenger Syndrome: Syndrome defined by increased pulmonary vascular resistance and cyanosis in the setting of a congenital communication between the systemic and pulmonary circulatory beds. It is often a consequence of untreated congenital cardiac shunts.

CLINICAL APPROACH

Overview
Approximately 0.8% of live births in the united states are complicated by congenital heart defects other than the bicuspid aortic valve anomaly. The development of definitive surgical and procedural techniques in infancy and childhood has resulted in marked improvement in survival for infants and children with congenital heart disease. In the 1960s the mortality prior to adulthood for patients born with congenital heart disease was 85%. In 2010 survival to adulthood for patients born with congenital heart disease survive was 85%. There are over one million adults in the United States with congenital heart disease.

Adult patients with congenital heart disease diagnosed in childhood are more likely to have a history of complex disease treated with palliative or corrective surgical procedures. As adults, these patients often present with problems related to their prior surgeries such as conduit stenosis, scar-related arrhythmias, or failure of the right ventricle or tricuspid valve to accommodate systemic pressures. In contrast, patients diagnosed de novo with congenital heart disease in adulthood are more likely to have simpler anomalies that may be symptomatic or asymptomatic and discovered serendipitously.

The surgical and procedural management of complex congenital heart disease has evolved over the past several decades; two patients with the same congenital abnormality treated in different decades may have had dramatically different surgeries. Also, many cases of complex congenital heart disease are unique, and surgical repairs often involve a deviation from the “norm” in order to address other lesions.

High-quality cardiac imaging is extremely important for the proper management of complex adult congenital heart disease. Cardiac magnetic resonance imaging (cMr i) has emerged as the imaging study of choice for most of these patients. cMRI is particularly useful for quantifying the size and function of the right ventricle and for the objective evaluation of flow through shunts and surgical conduits. cMRI also provides a detailed review of the patient’s cardiac anatomy and in some cases fills in some “historic gaps” when medical records are not available. In simpler lesions modalities such as transesophageal echocardiography (TEE) and computed tomography (CT) play larger roles in guiding diagnosis and management.

Bicuspid aortic valve is the most comnon adult congenital heart problem, with a prevalence of approximately 1 % of all live births. This disorder affects men more often than women, and it may occur as a spontaneous mutation or as an inherited (autosomal dominant) disorder. Bicuspid aortic valve is associated with aneurysmal enlargement of the ascending aorta in 50% of cases. This may be the result of hemodynamic factors (eccentric, turbulent aortic flow) and genetic factors (early apoptosis, cystic medial degeneration). The bicuspid valve anomaly is sometimes associated with other left-sided stenotic lesions, including aortic coarctation in 5–10% of cases.

As the name suggests, bicuspid aortic valves have two aortic cusps rather than the normal three. These valves are prone to degenerative changes earlier in life than normal valves. The most common complication of bicuspid aortic valve is aortic stenosis, with peak incidence in the sixth and seventh decades of life. Mixed aortic stenosis and regurgitation is not uncommon. Bicuspid aortic valve is often an incidental echocardiographic finding in younger patients, whereas older patients may present with symptoms such as exertional dyspnea or chest pain. The treatment of choice for patients with symptomatic bicuspid aortic valve dysfunction is prosthetic replacement. In patients with severe bicuspid stenosis or regurgitation, ascending aortic replacement is performed if the maximum aortic dimension exceeds 4.5 cm.

Coarctation of the aorta affects approximately 4 per 10,000 live births and accounts for approximately 5% of all congenital heart defects. It has a strong association with bicuspid aortic valve, as approximately half of patients with aortic coarctation have a bicuspid aortic valve. Aortic coarctation is closely associated with turner syndrome. The precise cause of aortic coarctation is not known, but
pathogenesis is felt to involve the abnormal migration of fetal ductal tissue into the wall of the thoracic aorta. Medial thickening and intimal hyperplasia occur at the site of the defect, which is commonly found near the attachment of the ligamentum arteriosum (Figure 26-1). Rarely, acquired coarctation can result from inflammatory conditions such as Takayasu arteritis or even severe aortic atherosclerosis.

Adults with coarctation most commonly present in the context of a workup for severe hypertension. Untreated coarctation can lead to complications associated with severe hypertension and increased left ventricular afterload such as stroke, heart failure, aortic valve dysfunction, and aortic dissection. Classic findings include hypertension in the upper extremities with femoral pulse delay and low or undetectable blood pressure in the lower extremities. The diagnosis of coarctation can be confirmed by imaging modalities, including Doppler echocardiography, contrast enhanced CT. or MRI. Pathognomonic chest radiograph findings include the “3” sign with a prominent aortic bulge proximal and distal to the site of coarctation and erosive rib notching produced by intercostal collateral vessels (Figure 26-2). Treatment can include surgery, but in more recent years percutaneous dilatation and stenting has become more common. Intervention is advised if the systolic pressure gradient across the coarctation exceeds 20 mmHg or if there is evidence of significant collateral flow around the coarctation.

Pulmonic stenosis is a common congenital abnormality that is found in approximately 10% of all children with congenital heart disease. Stenosis can involve the valve itself, or there can be sub- or supravalvular stenosis. Pulmonic stenosis often

Coarctation of the aorta

Figure 26-1. Coarctation of the aorta.

Posterior rib notching

Figure 26-2. Posterior rib notching in a patient with coarctation of the aorta (arrow).

has a benign course during childhood, and diagnosis in adulthood is common. Symptoms of pulmonic stenosis correlate with the pressure gradient across the valve and include exercise intolerance and right-sided heart failure. Balloon valvuloplasty is recommended for asymptomatic patients for stenoses with a peak Doppler gradient > 60 mmHg or a mean gradient > 40 mmHg. In symptomatic patients intervention is recommended for peak and mean gradients of 50 and 30 mmHg, respectively.

Congenital Shunts
A trial septal defects are the second most common congenital cardiac defects in adults after bicuspid aortic valve. They arise from abnormal formation of the interatrial septum or subsequent failure of normal septation in adulthood. The fetal atrial septum consists of two separate membranes with offset foramina that direct oxygenated placental blood from the inferior vena cava to the left atrium. These membranes fuse at birth, directing venous flow through the right heart. In some cases the septum is incompletely formed with residual “holes” that persist after birth. These are referred to as
atrial septal degects (ASDs). In other cases the normal membranes of the septum separate after birth, resulting in a patent foramen ovale (PFO). Defects of the atrial septum are often discovered incidentally when cardiac imaging is performed for other indication.

Atrial septal defects occur in 1 of every 1,000 live births. Midseptum (ostium secundum) defects are the most common, but defects adjacent to the base of the septum (ostium primum ASD), vena cavae (sinus venosus ASD), and coronary sinus also occur. Ostium secundum defects are usually isolated abnormalities, while ostium primum defects are associated with endocardial cushion fedects and often complicate trisomy 21. Sinus venous ASDs are associated with anomalous pulmonary venous return to the right atrium or vena cavae. The major problem with ASDs is excessive left-to-right shunting of blood across the septum. Shunting can result in right-sided pressure and volume overload, leading to pulmonary hypertension, right ventricular failure and Eisenmenger syndrome. 

Atrial septal defects can be diagnosed with transthoracic or transesophageal echocardiography or by cardiac MRI, which can also quantify shunt flow. ASD closure is considered appropriate when the ratio of pulmonary to systemic flow is >2:1 or when patients manifest evidence of right ventricular overload. Closure may be performed with open-heart surgery or catheter-based device closure; however, for technical reasons, device closure is limited to ostium secundum defects.

Patent foramen ovale (PFO) is a far more common abnormality that can be seen on as many as 25% of all echocardiograms, often after provocation with maneuvers such as Valsalva. Shunting in PFOs is usually minor, and right-sided overload is rare. There is an association between PFO and stroke that is incompletely understood, but one theory is that small thrombi may form between the membranes of the septum and subsequently embolize. PFO is also associated with migraine headaches. At present the indications for surgical or device closure of PFOs are controversial, but it is generally considered appropriate in patients with PFO who have had recurrent despite appropriate medical therapy.

Ventricular septal defects (VSDs) are the third most common congenital heart defect in adults (after bicuspid aortic valves and ASD); they are much more common in children, where most close spontaneously. VSDs can involve any portion of the interventricular septum, but defects in the membranous portion of the septum near the base of the heart are most common. Approximately 10% of VSDs occur in the muscular septum, and 5% are located near the left and right ventricular outflow tracts. Small (< 0.5-cm diameter) Vsds tend to produce loud systolic or continuous murmurs due to high velocity flow. Flow volume with small VSDs is minimal, and these are usually asymptomatic. Larger VSDs produce softer murmurs but produce higher flow. The principal concern with VSD is volume overload of the pulmonary circuit and the development of pulmonary hypertension. Symptoms include exertional dyspnea, exercise intolerance, and edema.

Surgical or device closure is indicated when the shunt fraction is ≥2:1 and there is evidence of left ventricular volume overload or if the patient has a history of endocarditis. One can consider closure with a shunt fraction ≥1.5:1 if there is evidence of increased but reversible pulmonary vascular resistance. Repair is typically via openheart surgery; however, in select patients with membranous VSDs, catheter-based device closure may be an option.

Patent ductus arteriosus (PDA) is failed closure of the ductus arteriosus, the vascular conduit that communicates between the fetal main pulmonary artery and the aortic arch (Figure 26-3). At birth, the ductus usually closes and becomes the ligamentum arteriosum. PDA is often an isolated defect in adults and tends to affect women more often than men. Symptoms are generally related to the degree of shunting and mimic those of ASD and VSD, namely, exertional dyspnea, orthopnea, and symptoms consistent with pulmonary hypertension. Percutaneous closure is the preferred treatment in adults with symptomatic PDA.

Patent ductus arteriosus
Figure 26-3. Patent ductus arteriosus. (Reprinted with permission, Cleveland Clinic Center for Medical Art & Photography © 2014. All Rights Reserved.)


Eisenmenger syndrome, a very serious complication, is defined by the triad of a systemic-to pulmonary conncetion, pulmonary arterial hypertension, and cyanosis Eisenmenger syndrome is usually an end-stage complication in patients with congenital left-to-right shunts. Left-to-right shunts increase pulmonary blood flow, leading to cellular and structural changes in the pulmonary arteries that result in increased pulmonary vascular resistance and pulmonary hypertension. Untreated, the pulmonary pressures in patients with Eisenmenger syndrome eventually rival or exceed systemic arterial pressures, resulting in a reversal of shunt flow. Right to left flow results in profound hypoxemia and cyanosis, leading to fatigue, end organ dysfunction, and eventually death.

Ventricular septal defects account for one-third of all cases of Eisenmenger syndrome, followed closely by atrial septal defects. The risk for Eisenmenger syndrome is proportional to shunt size and the volume of increased pulmonary flow. However, much of what we know about Eisenmenger syndrome comes from observation of patients who already have the diagnosis; the events involved in the progression to Eisenmenger syndrome are not well described.

Patients with Eisenmenger syndrome experience a broad range of symptoms, including fatigue, syncope, and shortness of breath. Physical examination reveals central cyanosis, digital clubbing, a right ventricular heave, and a prominent or even palpable P2. Prominent jugular V waves and a systolic murmur at the left sternal border may be indicative of related tricuspid regurgitation. Advanced Eisenmenger syndrome can produce right ventricular failure, including peripheral edema, ascites, and hepatomegaly.

Management of Eisenmenger syndrome is largely supportive. Pregnancy is considered absolutely contraindicated since mortality approaches 50-70%, and women with Eisenmenger syndrome should be counseled regarding contraception or surgical sterilization. Patients with Eisenmenger syndrome should avoid dehydration, weight-bearing exercise, peripheral vasodilator therapy, and anemia. Erythrocytosis is common in Eisenmenger syndrome, and patients with symptoms of hyperviscosity benefit from phlebotomy with saline replacement of blood volume to prevent dehydration. There are data suggesting that pulmonary vasodilator therapy may improve quality of life in patients with Eisenmenger syndrome. Combined heart and lung transplantation is an option for qualified patients. Life expectancy is reduced in Eisenmenger syndrome by about 20 years when compared to the general population.

Complex Congenital Abnormalities
Transposition of the great arteris (TGA) is characterized by discordance between the ventricles and the great arteries. In D-type transposition (D-TGA; dextrorotary TGA) the atria and ventricles are concordant, but the ventricles and great arteries are discordant (Figure 26-4). This results in separate pulmonary and systemic circulatory beds without communication. D-TGA affects 3–4 per 10,000 live births and accounts for 3% of all cases of congenital heart disease. It was a uniformly fatal disease until a few decades ago, when techniques were developed to allow for mixing of right- and left-sided circulation systems. Administration of prostacyclin 1 keeps the ductus arteriosus patent, and balloon septostomy can be performed to create an atrium-level shunt. Once stable, the infant can then undergo a more definitive surgical repair. In patients with no other major congenital defects, the treatment of choice is an arterial switch procedure (Figure 26-5). Prior to the development of the

D-type transposition of the great arteries

Figure 26-4. D-type transposition of the great arteries (D-TGA). The right atrium (RA) and right ventricle are in correct position, but the aorta (AO) fills via the RV. The left atrium (LA) and left ventricle (LV) are correctly positioned, but the pulmonary artery (PA) is filled via the LV. (Reprinted with permission, Cleveland Clinic Center for Medical Art & Photography © 2014. All Rights Reserved.)

Arterial switch surgery

Figure 26-5. Arterial switch surgery for D-TGA. Right atrium (RA), right ventricle (RV), left atrium (LA), left ventricle (LV), aorta (AO), and pulmonary artery (PA) are shown. (Reprinted with permission, Cleveland Clinic Center for Medical Art & Photography © 2014. All Rights Reserved.)

Mustard procedure

Figure 26-6. Atrial switch surgery (Mustard procedure) in D-TGA. The anatomic right ventricle (located on the right side) acts as the systemic pump. Vena cava flow is routed to the right atrium via a baffle (arrow). Right atrium (RA), right ventricle (RV), left atrium (LA), left ventricle (LV), aorta (AO), and pulmonary artery (PA) are shown. (Reprinted with permission, Cleveland Clinic Center for Medical Art & Photography © 2014. All Rights Reserved.)

arterial switch procedure, patients were treated with an atrial switch surgery (Mustard or Senning procedure). These surgeries involved creating an intra-atrial baffle to direct deoxygenated blood from the venous circulation into the left (venous) ventricle (Figure 26-6). The baffle also directs pulmonary venous blood to the right (systemic) ventricle. Atrial switch surgeries eliminate hypoxemia but do not correct ventriculoarterial discordance, a fact that often leads to problems later in life. For
patients with D-TGA and large VSDs and pulmonic stenosis or atresia, a Rastelli procedure is usually performed. In this surgery a baffle is created to shunt oxygenated from the VSD into the aorta while a synthetic conduit is used to connect the right ventricle to the pulmonary artery.

l-type transposition (L-TGA; levorotary TGA) is also called congenitally corrected tga. L-TGA affects fewer than 1 in 10,000 live births and accounts for less than 1% of all cases of congenital heart disease. In this disorder there is discordance between the atria and ventricles and between the ventricles and great arteries (Figure 26-7). Thus there is normal transit of venous blood through the pulmonary circuit and into the systemic circulation, but the left ventricle is the venous ventricle and the right ventricle is the systemic ventricle.

Patients who have undergone a successful arterial switch procedure generally do well. Patients who had atrial switch procedures commonly develop failure of the systemic right ventricle, which is at a mechanical disadvantage when pushing against system vascular resistance. This is also a problem for patients with L-TGA. Atrial arrhythmias are also common complications of the atrial switch. Baffle stenosis can

L-type transposition of the great arteries

Figure 26-7. L-type transposition of the great arteries (L-TGA). The atria are concordant with their respective great arteries, but there is ventriculoarterial discordance. Normal cardiopulmonary circulation is maintained but the anatomic right ventricle (located on the left side) acts as the systemic pump. Right atrium (RA), right ventricle (RV), left atrium (LA), left ventricle (LV), aorta (AO) and pulmonary artery (PA) are shown. (Reprinted with permission, Cleveland Clinic Center for Medical Art & Photography © 2014. All Rights Reserved.)

occur, leading to obstruction of the superior vena cava and/or pulmonary veins. Management of these complications is similar to the management of patients with heart failure and arrhythmias who do not have congenital heart disease. Baffle stenosis is sometimes amenable to balloon dilatation. Patients with medically refractory heart failure can be considered for advanced procedures such as ventricular assist devices and transplantation.

Tetralogy of fallot (ToF is defined by the simultaneous presence of pulmonary artery stenosis, ventricular septal defect, rightward displacement of the aorta, and concentric right ventricular hypertrophy (Figure 26-8). ToF affects approximately 4 of every 10,000 live births and represents approximately 10% of all cases of congenital heart disease. Although ToF is defined by its four cardinal abnormalities, the disorder is frequently associated with other congenital defects such as anomalous origin of the coronary arteries, patent ductus arteriosus, and a right-sided aortic arch. The principal hemodynamic lesion in ToF is right ventricular outflow tract (RVOT) obstruction, the severity of which dictates whether the patient will become cyanotic. VSDs in ToF are usually large and unrestricted, so there is little difference between left and right ventricular pressure. Ventricular outflow will be directed through whichever conduit (aorta or pulmonary artery) has lower resistance. If the aortic vascular resistance is higher, the patient will have a left-to-right shunt and will not become cyanotic. If the pulmonary vascular resistance is higher, the patient

Tetralogy of Fallot

Figure 26-8. Tetralogy of Fallot. (Reprinted with permission, Cleveland Clinic Center for Medical Art & Photography © 2014. All Rights Reserved.)

will have a right-to-left shunt and cyanosis will occur. The degree of RVOT obstruction in ToF can vary according to factors such as vasodilatation and the degree of RVOT contractility, causing episodic cyanosis.

Most patients with ToF undergo surgical repair within the first year of life. Definitive repair involves relieving RVOT obstruction (RVOT enlargement), separation of systemic and pulmonic circulation (VSD closure), and preservation of pulmonic valve function (Figure 26-9). In patients with small pulmonary annular sizes, it may not be possible to enlarge the RVOT without placing a large transannular patch, which can result in severe pulmonic valve regurgitation. Older adults with ToF may have received a palliative shunt rather than a definitive repair. The Blalock-Taussig shunt consists in creating a conduit between the innominate or subclavian artery and the pulmonary artery to maintain flow within the pulmonary circuit.

Adults with a history of ToF may develop complications related to their procedures. Pulmonic regurgitation is a common problem and when severe, it can lead to right ventricular dysfunction. In this case surgical or percutaneous pulmonic valve replacement may be required. Tachyarrhythmias are another major concern, particularly ventricular tachycardia originating from the modified RVOT. Patients treated with palliative shunt may develop symptoms consistent with subclavian steal.

Ebstein's anomaly is a congenital cardiac condition that involves the tricuspid valve and right ventricle. Ebstein’s anomaly occurs in approximately 1 in 20,000 live births and is linked to maternal exposute to lithium. In Ebstein’s anomaly the leaflets of the tricuspid valve are elongated and malformed, often with a “sail-like” anterior. The valve is apically displaced in the right ventricle and the proximal portion of the

Surgical repair of tetralogy

Figure 26-9. Surgical repair of tetralogy of Fallot with internal (a) and external (b) views of the heart; the right ventricular outflow tract is enlarged using a transannular patch (TAP), and the ventricular septal defect is closed. (Reprinted with permission, Cleveland Clinic Center for Medical Art & Photography © 2014. All Rights Reserved.)

right ventricle is “atrialized,” limiting the functional right ventricle to the apex or RVOT alone. The tricuspid valve in Ebstein’s anomaly is severely regurgitant, and many cases are associated with an atrial septal defect. Other associated anomalies include VSD, PDA, coarctation of the aorta, and pulmonary outflow obstruction.

Adults with Ebstein’s anomaly may present with palpitations due to tachyarrhythmias. Atrial tachyarrhythmias are common, but accessory pathways between the right atrium and ventricle are also common and patients may present with Wolff- Parkinson-White syndrome. Severe tricuspid regurgitation with right ventricular dysfunction may also occur. Treatment of adults with Ebstein’s anomaly involves management of tachyarrhythmias and volume overload related to heart failure. In some cases tricuspid valve replacement and ASD repair is required.

CASE CORRELATION
  • See also Case 10 (valvular stenosis), Case 22 (syncope), and Case 23 (dyspnea).

COMPREHENSION QUESTIONS

26.1 A 32-year-old woman with an ostium secundum ASD presents for follow-up after a 4-year absence from your clinic. You previously advised her to undergo catheter-based closure of her ASD, but she declined because she was feeling well. She has not been seen by a physician since her last office visit with you. Over the past year she has experienced a significant functional decline with progressive weakness, dizziness, and shortness of breath. She also reports headaches, blurry vision, and epistaxis.

Her vital signs are as follows: blood pressure 90/68 mmHg, pulse 110 bpm, respirations 22 per minute, and room air oximetry 78%. She has perioral cyanosis. Examination reveals a loud and palpable second heart sound with III/VI holosystolic murmur at the left sternal border. Her lungs are clear, and her extremities are cool with marked digital clubbing. Laboratory data include a normal basic metabolic panel, hemoglobin 21 g/dL, and hematocrit 65%. Her echocardiogram reveals marked right-sided chamber enlargement with severe right ventricular systolic dysfunction with severe tricuspid regurgitation and an estimated right ventricular systolic pressure of 120 mmHg. There is a large secundum ASD with laminar flow from right to left. She agrees to hospitalization for additional diagnostic testing and management.

Which of the following treatment choices is not appropriate for this patient?
A. Right-heart catheterization with trial of pulmonary vasodilator therapy
B. Percutaneous ASD closure
C. Phlebotomy
D. Advanced heart failure consultation to discuss eligibility for heart and lung transplantation
E. Oral contraceptive therapy

26.2 All of the following untreated congenital heart defects are associated with a risk for Eisenmenger syndrome except
A. ASD
B. VSD
C. PDA
D. Bicuspid aortic valve
E. ToF

26.3 Which of the following is not a feature of tetralogy of Fallot (ToF)?
A. Aortic dilatation
B. Pulmonic stenosis
C. Rightward displacement of the aorta
D. Right ventricular hypertrophy
E. Ventricular septal defect

26.4 Which of the following statements regarding adult congenital heart disease is correct?
A. D-TGA is most effectively treated with an arterial switch procedure
B. L-TGA is most effectively treated with a Rastelli procedure
C. ASD is the most common congenital heart disease encountered in adults
D. Adult patients with Ebstein’s anomaly seldom present with tachyarrhythmias
E. ToF is most effectively treated with a Blalock-Taussig shunt


ANSWERS

26.1 B. ASD closure is not appropriate in Eisenmenger’s syndrome because the patient has already developed irreversible pulmonary arterial hypertension. This patient has cyanotic heart disease and hyperviscosity syndrome. Appropriate therapies include phlebotomy with saline replacement and iron therapy if iron deficiency is present. Pregnancy is absolutely contraindicated in her case, and contraception would be appropriate. Pulmonary vasodilator therapy has symptomatic benefit in some patients with Eisenmenger syndrome and would be reasonable to try. This patient has a poor prognosis, and a discussion of advanced treatment options such as transplantation would be reasonable.

26.2 D . Bicuspid aortic valve is an isolated valvular abnormality that is not associated with left-to-right shunting. All of the remaining diagnoses have shunting as a key hemodynamic feature and may result in Eisenmenger syndrome.

26.3 A . Aortic dilatation is not a feature of tetraolgy of Fallot.

26.4 A . The aortic switch is the best therapy for D-TGA. L-TGA is congenitally corrected. Atrial switch surgeries (Mustard or Senning) were common therapies for D-TGA prior to the development of the arterial switch. Bicuspid aortic valve is the most common congenital heart problem in adults. Almost half of adult patients with Ebstein’s anomaly present with tachyarrhythmias. Definitive ToF surgery includes RVOT enlargement with a transannular patch and VSD closure. The Blalock-Taussig shunt is a palliative surgery designed to support pulmonary flow.


CLINICAL PEARLS
  • The numbers of adults with congenital heart diseases are increasing.
  • Cardiac MRI is the preferred imaging modality for patients with complex congenital heart disease.
  • Adults with surgically managed complex congenital disease in childhood commonly present with symptoms related to their surgeries.
  • Closure of congenital shunt lesions is dictated by patient symptoms, ventricular function, and the size of the shunt fraction.
  • Arrhythmias are the most common complication of Ebstein’s anomaly in adults.
References

Diller GP, Dimopoulos K, Broberg CS, et al. Presentation, survival prospects, and predictors of death in Eisenmenger syndrome: a combined retrospective and case-control study. Eur Heart J. 2006;27(14):1737–1742. 

Galiè N, Beghetti M, Gatzoulis MA, et al. Bosentan therapy in patients with Eisenmenger syndrome: a multicenter, double-blind, randomized, placebo-controlled study. Circulation. 2006;114(1):48–54. 

van der Velde ET, Vriend JW, Mannens MM, et al. CONCOR, an initiative towards a national registry and DNA-bank of patients with congenital heart disease in the Netherlands: rationale, design and first results. Eur J Epidemiol. 2005;20(6): 549–557. 

Warnes CA, Williams RG, Bashore TM, et al. ACC/AHA2008 Guidelines for the Management of Adults with Congenital Heart Disease: Executive Summary: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (writing committee to develop guidelines for the management of adults with congenital heart disease). Circulation. 2008;118(23):2395–2451. 

Windram JD, Siu SC, Wald RM, Silversides CK. New directives in cardiac imaging: imaging the adult with congenital heart disease. Can J Cardiol. 2013;29(7):830–840.

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