Cardiology Intensive Board Review, 3 ed.

Adult Congenital Heart Disease

Luke J. Burchill


1.e. Obtain iron studies. Eisenmenger syndrome is the most extreme manifestation of pulmonary arterial hypertension associated with any nonrestrictive congenital heart defect that exposes the pulmonary vascular bed to systemic pressures. The development of pulmonary obstructive arteriopathy and increased pulmonary vascular resistance leads to shunt reversal and cyanosis. Secondary erythrocytosis is a physiologic response to chronic hypoxemia. Eisenmenger syndrome is a multisystem disease that also results in abnormal clotting, impaired renal function, altered uric acid and bilirubin metabolism, and musculoskeletal disease including gout. A common misconception in the management of patients with cyanotic coronary heart disease (CHD) is that an increased hematocrit level alone is an indication for phlebotomy. In fact, therapeutic phlebotomy has a very limited role in patient management and should only be performed if the hemoglobin is more than 20 mg/dL and the hematocrit is greater than 65% withsymptoms of hyperviscosity and no evidence of dehydration. Symptoms of hyperviscosity include headache, fainting/dizziness, altered mentation, altered vision, tinnitus, myalgias, and restless legs. Hyperviscosity symptoms should disappear after adequate phlebotomy.

Eisenmenger patients with a history of repeat phlebotomies are at increased risk for iron deficiency anemia, which itself is associated with increased stroke risk.6 The patient’s history of phlebotomies, persistent fatigue, low MCV, and low hemoglobin (relative to oxygen saturation) are all suggestive of iron deficiency anemia. Iron studies are the most appropriate next investigation in this context. Pulmonary vasodilator therapy has been shown to improve 6-minute walk distance in patients with Eisenmenger physiology7; however, further investigations are generally indicated prior to commencement (e.g., pulmonary function tests with volumes and CO2 diffusion, computed tomography for exclusion of pulmonary emboli, cardiac catheterization with vasodilator challenge). Heart–lung transplantation may be considered in Eisenmenger patients with severe limitations; however, long-term survival after heart–lung transplantation is often inferior to continuing conservative management in this population.

2.c. Blood cultures. The incidence of IE in young adults with CHD is almost 35-fold that of the general population.8 Hence, a high index of suspicion for IE is required in these patients. ACHD patients who present with fever and potential IE should have blood cultures drawn before antibiotic therapy is initiated to avoid subsequent false-negative blood cultures and, in the instance of positive blood cultures, to guide antibiotic treatment. In this case, blood cultures should be taken as the first step in the patient’s management and prior to commencement of antibiotic therapy. Since the sensitivity of TTE is too low to exclude IE, TEE should be performed after multiple sets of blood cultures are taken. Surgery for IE is indicated in patients with recurrent emboli, medically uncontrolled infection, prosthetic material infection, CHF, and development of heart block.

3.a. Closure is indicated in patients with a VSD complicated by IE (AHA guidelines, class I recommendation, level of evidence C1). VSD closure is also indicated in the following circumstances:

Patients with attributable symptoms; LV volume overload; deteriorating ventricular function due to volume (LV) or pressure (RV) overload; and/or a Qp/Qs (pulmonary-to-systemic blood flow ratio) ≥1.5:1 in the absence of advanced pulmonary vascular disease

Significant RV outflow tract (RVOT) obstruction (catheter gradient > 50 mmHg)

VSD closure may also be considered in patients with a perimembranous or subarterial VSD and more than mild or progressive aortic regurgitation3

In deciding whether to close a defect, TTE ± TEE is essential to define the size and location of the defect and to identify coexisting septal defects as more than one muscular defect is common.

4.a. Ebstein anomaly without prior intervention. Current AHA guidelines for ACHD patients recommend antibiotic prophylaxis before dental procedures in the following patient subgroups1:

Prosthetic cardiac valve or prosthetic material used for cardiac valve repair

Prior IE

Unrepaired and palliated cyanotic congenital heart disease, including surgically palliated constructed palliative shunts and conduits

Completely repaired CHD with prosthetic materials, whether placed by surgery or by catheter intervention, during the first 6 months after the procedure

Repaired CHD with residual defects at the site or adjacent to the site of a prosthetic patch or prosthetic device that inhibits endothelialization

5.c. Ebstein anomaly. The ECG demonstrates a short PR interval, presence of delta waves, and wide QRS interval that are all consistent with preexcitation and Wolff-Parkinson-White syndrome. Wolff-Parkinson-White syndrome is commonly associated with Ebstein anomaly. Catheter ablation can be beneficial for treatment of recurrent supraventricular tachycardia in some patients, although recurrence is common due to the presence of multiple accessory pathways.9 (see also question 57).

6.d. Eisenmenger syndrome. Eisenmenger syndrome is one of few conditions that pose an absolute contraindication to pregnancy13 due to very high maternal mortality and fetal loss.

7.b, e. Blalock-Taussig and Fontan (see also Table 9.1).

8.c, d, f. Senning or Mustard, arterial switch, and Rashkind.

9.e, f. Fontan and Rashkind.

10.g. None of the above.

11.a. Ross. Please refer to Table 9.1, which provides a complete overview of common surgical procedures for congenital heart disease.

12.c. Equal preponderance.

13.b. Predominantly female.

14.a. Predominantly male.

15.a. Predominantly male.

16.c. Equal preponderance.

17.Figure 9.2, d. Pulmonic stenosis. A left lateral right ventriculogram demonstrates pulmonic stenosis with dilatation of the proximal main PA.

18.Figure 9.3, a. Coarctation of the aorta. Left lateral view of the LV and aorta. The catheter was advanced from the femoral vein and crossed a large patent foramen ovale to reach the left side of the heart. A discrete area of narrowing (coarctation) is seen in the upper descending aorta.

19.Figure 9.4, e. VSD. A left ventriculogram obtained in the left anterior oblique view allows optimal visualization of the interventricular septum and demonstrates a large VSD with significant left-to-right shunt of contrast.

20.Figure 9.5, b. Patent ductus arteriosus (PDA). An aortogram in straight lateral view. There is a large abnormal communication between the upper descending aorta and the main PA, confirming the diagnosis of PDA.

21.Figure 9.6, c. Hypertrophic cardiomyopathy. A left ventriculogram in right anterior oblique projection demonstrates a small ventricle with marked ventricular hypertrophy and narrow left ventricular outfl ow tract (LVOT).

22.e. TOF. On cardiac palpation and auscultation, patients with TOF demonstrate RV lift (RV hypertrophy) and a systolic ejection murmur over the pulmonic region caused by RVOT obstruction. A soft, short systolic ejection murmur suggests severe obstruction. The intensity and severity of the ejection murmur are inversely related to the severity of RV obstruction. P2 is absent, and only the aortic component of S2is audible.

23.d. Ebstein anomaly. Patients with Ebstein anomaly have a widely split S1 (reflecting delayed closure of the anterior tricuspid leaflet) and split S2 (delayed closure of the pulmonary valve due to associated right bundle branch block). The “sail sound” contributes to a loud S1 and reflects increased tension in the large mobile anterior leaflet as it reaches the limits of its systolic excursion. The systolic murmur of TR is typically grade 2/6 to 3/6 and heard loudest overlying the tricuspid area. Ejection clicks, opening snaps, and diastolic murmurs may be heard. Hepatomegaly caused by passive congestion and elevated RA pressure may be present.

24.b. Coarctation of the aorta. Patients with coarctation of the aorta have systolic hypertension and higher BP in their arms than in their legs, resulting in delayed femoral arterial pulses. Because many patients also have bicuspid aortic valve, a systolic ejection click is frequently present, and the aortic component of S2 is accentuated. A harsh systolic ejection murmur is audible along the left sternal border and radiates to the back, especially over the point of discrete coarctation.

25.a. Eisenmenger syndrome. Patients with Eisenmenger syndrome demonstrate cyanosis and digital clubbing, the severity of which depends on the magnitude of right-to-left shunting. An RV lift and loud P2caused by pulmonary hypertension are usually present. The murmur caused by ASD, VSD, or PDA is no longer present when Eisenmenger syndrome develops because left- and right-sided pressures have equalized. Many patients will have a tricuspid or pulmonary regurgitation murmur, or both.

26.c. PDA. Patients with PDA exhibit hyperdynamic LV impulse with wide pulse pressure. A continuous machinery murmur, heard best in the pulmonic region, is a characteristic finding.

27.c. Cleft mitral valve. (see also question 45).

28.b. Supravalvular pulmonic stenosis.

29.e. Persistent left SVC. (see also question 45).

30.a. Supravalvar aortic stenosis and b. Supravalvar pulmonary stenosis

31.d. Anomalous pulmonary venous drainage. (see also question 44).

32.a. Eisenmenger syndrome.

33.e. TOF.

34.d. Ebstein anomaly.

35.b. Coarctation of the aorta.

36.c. PDA.

37.c. Figure 9.9. This is a parasternal short-axis view at the aortic valve level using TTE. Two leaflets showing a “fish-mouth” opening during systole are seen instead of three leaflets.

38.a. Figure 9.7. This is an apical four-chamber view using TTE. There is a membrane separating the LA into a posterior chamber, usually where the pulmonary veins empty, and an anterior chamber that contains the mitral valve.

39.d. Figure 9.10. Subcostal TTE view showing the ASD in the lower atrial septum, with downward displacement of the atrioventricular (AV) valve. (see also question 45).

40.e. Figure 9.11. This is a parasternal short-axis view at the aortic valve level, using TTE. There are four visible leaflets.

41.b. Figure 9.8. A magnified TEE long-axis view of the LVOT, aortic valve, and ascending aorta. There is a membrane visible in the LVOT, consistent with a subaortic membrane.

42.e. All of the above. The foramen ovale is the interface between the septum primum and septum secundum and in utero provides an important route for blood as it bypasses the collapsed fetal lungs (oxygenation being achieved via the placenta). In about 25% of humans the flap of tissue making up the foramen ovale does not fuse after birth and results in a PFO. Stroke patients with PFO and atrial septal aneurysm (ASA) have an average annual risk of recurrent stroke of 4.4%.10 PFO is also associated with decompression sickness, platypnea-orthodeoxia, and migraine. Factors associated with a greater risk of paradoxical embolism are large PFO size and the presence of an ASA. Though several management strategies exist for patients with cryptogenic stroke and PFO, including anticoagulation, antiplatelet therapy, and closure via percutaneous or surgical means, no clear consensus regarding therapy exists.

43.a. Ligation or percutaneous closure of the PDA. PDA is the persistence after birth of an in utero communication between the aorta and the left PA, which, along with the foramen ovale, is designed to bypass blood away from the collapsed fetal lungs. It is the third most common congenital heart defect in adults and is generally found in isolation in the adult. Frequently, this lesion is discovered by the unusual quality of a continuous “machinery” murmur at the left upper sternal border. Because a patent ductus is an aortopulmonary communication, the pulse pressure frequently is widened and the pulses are brisk to bounding.

Closure of a PDA either percutaneously or surgically is indicated for LA and/or LV enlargement or in patients with prior endarteritis.1 It is reasonable to close a small asymptomatic PDA by catheter device so as to decrease the future risk of endarteritis (0.45% per year after the second decade of life); however, this is somewhat controversial. Surgical repair is recommended in those who meet indications and with PDAs too large for device closure or distorted ductal anatomy. Pulmonary vasodilators are not indicated in this patient due to the absence of pulmonary hypertension. By lowering pulmonary vascular resistance, pulmonary vasodilators could conceivably increase left-to-right shunting in those with moderate-to-large PDAs. Endocarditis prophylaxis is recommended for ACHD patients with a residual shunt including PDA.

44.c. Anomalous right pulmonary venous connection. Sinus venosus ASDs constitute 2% to 3% of interatrial communications. Strictly speaking, this defect lies outside the true atrial septum and is an abnormality of the venous connections. These defects are located on the right side of the upper or posterior atrial septum, most commonly at the SVC/RA junction and less commonly at the level of the inferior vena cava (IVC). Because of their superior location, sinus venosus defects are easily missed on TTE. Partial anomalous venous return of the right upper pulmonary vein is a common association (seen in up to 85% of patients). A bicaval view on TEE or demonstration by CT/MRI is diagnostic.

45.d. Subcostal four-chamber view. ASDs and anomalous pulmonary venous return should be suspected in patients with unexplained RV dilatation and volume/pressure overload (Fig. 9.14).

A secundum ASD is the common type of ASD and is located centrally in the interatrial septum at the site of the fossa ovalis. The defect may be single, multiple, or fenestrated. This defect is best viewed by transthoracic echocardiography in the subcostal view (due to ultrasound waves being better reflected off the interatrial septum in this view). Coexisting partial anomalous pulmonary venous drainage is seen in 5% of patients with a secundum ASD. The atrial septal defect occurs when the interatrial septum is deficient at the crux of the heart/level of the atrioventricular valves.

A primum ASD occurs as part of the spectrum of AVSD. Partial AVSD commonly describes a primum ASD in combination with a so-called cleft mitral valve, more correctly described as a trileaflet left-sided AV valve. Primum ASDs are often well demonstrated from the apical four-chamber view (± subcostal) in association with mitral regurgitation from a trileaflet left-sided AV valve (Fig. 9.15).

A coronary sinus defect is located in the wall that separates the coronary sinus from the LA. It may be fenestrated or completely absent. There is an associated left-sided SVC contributing to dilatation of the coronary sinus seen best on parasternal long-axis views. A coronary sinus defect should be suspected in a patient who has evidence of RV volume or pressure overload but no suggestion of a defect in the central portion of the atrial septum. Injection of agitated saline into the left arm leads to contrast in the coronary sinus, then the RA and finally the RV. An unroofed coronary sinus contains fenestrations such that bubbles travel from the left sided SVC and into the left atrium.

Figure 9.14 The findings of RA and RV dilatation in the apical four-chamber (A4C) view (A) and significant right-to-left shunting of agitated saline (B) are highly suggestive of an ASD ± anomalous pulmonary venous return. A secundum ASD is confirmed as a defect in the mid-portion of the interatrial septum, best seen in subcostal scan plane (C) and with color flow Doppler (D). ASD, atrial septal defect; RA, right atrium; RV, right ventricle.

46.b. Secundum ASD. The majority of secundum ASDs can be closed with a percutaneous catheter technique. ASD closure is indicated for RA and RV enlargement with or without symptoms. Small ASDs (<5 mm) with no evidence of volume overload do not require closure unless associated with cryptogenic paradoxical embolism. Sinus venous, coronary sinus, and primum defects are not amenable to device closure (Fig. 9.16; see also Question 3).

47.e. All of the above. Large ASDs can lead to RV volume overload, excessive blood flow to the pulmonary circulation, and pulmonary hypertension. Associated lesions are listed in Table 9.2 for each ASD type.

48.b. Type 2/perimembranous. See Table 9.3.

Figure 9.15 Primum ASD and its associated features. Note that the septal leaflet of the tricuspid valve is on the same plane as the mitral valve (A). Normally the septal leaflet of the tricuspid leaflet is apically displaced compared with the mitral valve. Mitral regurgitation frequently coexists with primum (B). (C) Short-axis views of the mitral valve show a “cleft” pointing toward the septum (*). (D) The cleft is more accurately characterized as a commissure between the superior and inferior bridging leaflets of the common AV canal. Additional echocardiographic features of AVSD (not demonstrated here) include elongation of the LV outflow tract (gooseneck deformity) ± LVOT obstruction. A4C, apical 4 chamber; ASD, atrial septal defect.

Figure 9.16 An atrial septal defect (ASD) occlusion device is seen positioned across a secundum ASD. The image was acquired using intracardiac echocardiography and consists of a short-axis view of the heart demonstrating the aortic valve and the interatrial septum dividing the left atrium (LA) and right atrium (RA).

49.d. Type 4/muscular. When indicated (see also Question 9), percutaneous device closure of a muscular VSD may be performed in VSDs remote (>4 mm) from the tricuspid and aortic valves. Percutaneous VSD closure is NOT approved by the U.S. Food and Drug Administration in the presence of the following:

High pulmonary vascular resistance and/or irreversible pulmonary vascular disease

Perimembranous or post-infarction VSDs

Sepsis or an active bacterial infection

Contraindications to antiplatelet therapy

Weight < 5.2 kg

50.b. Bicuspid aortic valve. Aortic coarctation is a common congenital defect that usually occurs in the region of the ligamentum arteriosus. It is most often discrete but may be associated with diffuse hypoplasia of the aortic arch and isthmus. Bicuspid aortic valve is the most common coexisting anomaly. However, the presence of VSD, PDA, and malformations of the mitral valve apparatus is well documented. Intracranial aneurysms have been reported in 3% to 10% of patients with coarctation of the aorta.12 There is no association between aortic coarctation and Ebstein anomaly (the latter being associated with right-sided lesions).

51.b. 20 mmHg. Intervention for coarctation is recommended in those with a peak-to-peak coarctation gradient greater than or equal to 20 mmHg.1,4 In the presence of significant collateral vessel blood flow, catheter-based and Doppler systolic gradients may underestimate the degree of obstruction and intervention may be considered with gradients <20 mmHg in this setting.

The most appropriate intervention for adults with native coarctation of the aorta remains controversial and either surgical or percutaneous intervention may be considered according to anatomy, comorbidities, center outcomes, and patient preference. In most ACHD centers, stenting has replaced balloon dilatation as the percutaneous intervention of choice, although this is not recommended in those with long segments of coarctation, vessel tortuosity, and transverse arch hypoplasia. Early mortality is usually less than 1% for primary operation in aortic coarctation.

52.d. Left coronary artery arising from the right sinus of Valsalva.

53.d. Spontaneous closure rarely occurs. Coronary fistulae rarely close spontaneously. The most common origin of coronary arteriovenous fistula is the right coronary artery, with a fistulous communication into the RV, RA, or coronary sinus (appearance on echocardiography demonstrated on the next page). Less commonly, it empties into the LV, LA, or PA. Complications may include CHF from left-to-right shunt, bacterial endocarditis, coronary ischemia, and rupture or thrombosis of the fistula. Surgical closure is associated with a good outcome (Fig. 9.17).

54.e. Valvular calcification. Both valvular and subvalvular aortic stenoses have male preponderance and may be associated with dilatation of the ascending aorta. The indications and risk of operation are similar. Although aortic regurgitation is more common in subvalvular aortic stenosis, it may also occur in valvular aortic stenosis. Valvular calcification is usually not observed in subvalvular aortic valve stenosis.

55.c. Transluminal balloon dilatation is the best treatment option in this case. Subaortic valve stenosis involves the presence of a membranous diaphragm in the LVOT that creates a turbulent flow across the LVOT. This frequently causes damage to the aortic valve and may cause aortic valve insufficiency. Surgical intervention is recommended for patients with subaortic stenosis and a peak instantaneous gradient of 50 mmHg or mean gradient of 30 mmHg on echo Doppler.1 Elective surgical resection is also indicated with lesser gradients <30 mmHg in the presence of progressive aortic regurgitation, LV systolic dysfunction (<55%), or dilatation (end-systolic diameter >50 mm). Although recurrences occur, surgical resection is frequently curative. Patients with aortic regurgitation may undergo valve repair at the time of subaortic stenosis resection. AVR would best be avoided unless the valve is severely damaged as it would involve the patient having to have further surgery if a biologic valve or be on long-term anticoagulation if a mechanical valve.

Figure 9.17 The right coronary artery fistula (red arrow) is seen in transthoracic short- axis (SAX) views arising from the right coronary cusp of the aortic valve (A) confirmed with color flow Doppler (B). In this case, the right coronary fistula drained into the right atrium (C) via a dilated coronary sinus (D). PLAX, parasternal long axis.

56.d. 60 to 80 years. Bicuspid aortic valve is the most common congenital cardiac anomaly with an incidence of 1% to 2% and a male predominance (4:1 sex ratio). Bicuspid aortic valve is sometimes inherited as an autosomal dominant trait with variable penetrance. Three morphologic types are recognized on the basis of commissural fusion: fusion of the left and right coronary cusps (most common), fusion of the right and non-coronary cusps, and fusion of the left and non- coronary cusps (least common). Sclerosis of the bicuspid aortic valve begins in the second decade and calcification may appear as early as the fourth decade.13 The peak age range for surgical intervention is between 60 and 80 years.14 Bicuspid aortic valve disease is associated with intrinsic abnormalities of the aortic media that predisposes to aortic root dilatation/aneurysm/rupture, and/or dissection. Other left-sided lesions associated with bicuspid aortic valve include coarctation of the aorta, subaortic stenosis, parachute mitral valve, VSD, and PDA.

57.e. Regular follow-up with repeat TTE in 6 months. Ebstein anomaly is characterized by apical displacement of the septal tricuspid leaflet of >8 mm/m2 and the presence of an elongated anterior tricuspid leaflet. The clinical presentation of Ebstein anomaly is influenced by numerous factors including the extent of tricuspid leaflet distortion and regurgitation, the degree of pulmonary stenosis, RA pressure, right heart size, and the presence of a right-to-left shunt. More than 50% of patients have a shunt at the atrial level with either a PFO or secundum ASD. Tricuspid valve repair or replacement is recommended by the AHA for the following indications1:

Symptoms or deteriorating exercise capacity

Cyanosis (saturations < 90%) due to right-to-left shunting

Paradoxical embolism

Progressive RV dilatation or reduction in RV systolic function

The patient has moderately severe TR with preserved RV systolic function. He has no symptoms and no evidence of CHF. There is no indication for intervention at this time.

58.c. Pulmonary regurgitation. TOF comprises (1) RVOT obstruction, (2) a VSD, (3) an aorta that overrides the VSD, and (4) RV hypertrophy. Primary repair in the first year of life consists of VSD closure and relief of RVOT obstruction, the latter achieved by increasing the RVOT diameter through patch augmentation or placement of a transannular patch. The integrity of the pulmonary valve is frequently disrupted at the time of repair and predisposes patients to pulmonary regurgitation, the most common residual abnormality seen in adults with repaired TOF.

Although less common than pulmonary regurgitation, ventricular tachycardia is an important cause of late mortality in adults with repaired TOF. TOF patients at highest risk for ventricular tachycardia and sudden death include those with significant residual pulmonary regurgitation/RVOT obstruction, reduced RV or LV function, QRS duration >180 milliseconds, high-grade ectopy on Holter monitoring, and inducible ventricular tachycardia.1517

59.d. Cardiac magnetic resonance imaging study. Pulmonary valve replacement is recommended in adults with repaired TOF, severe pulmonary regurgitation, and any of the following1:

Moderate-to-severe RV dysfunction

Moderate-to-severe RV enlargement (generally defined as >160 to 170 mL/m2)

Development of symptomatic or sustained atrial and/or ventricular arrhythmias

Moderate-to-severe TR

Surgery in adults with repaired TOF may also be considered for residual RVOT obstruction (peak gradient >50 mmHg), residual VSD with shunt greater than 1.5:1, and severe aortic regurgitation with associated symptoms or more than mild LV dysfunction.

Due to the complex geometry of the RV and limitations of echocardiography, cardiac magnetic resonance imaging is the gold standard investigation for assessment of RV dimensions and function in repaired TOF. Further evaluation of pulmonary regurgitation is also possible.

A positive bubble study would be helpful in confirming the presence of an ASD but would not help in deciding timing of pulmonary valve replacement. An ASD is unlikely to explain the degree of RV dilatation seen in this patient, particularly in the presence of a clear etiology (severe pulmonary regurgitation). Formal electrophysiologic testing is not indicated in TOF patients without a history of presyncope or palpitations. Invasive hemodynamics would not provide additional diagnostic or prognostic information. Since there is no evidence of volume overload, the initiation of diuretics and digoxin would not be recommended.

60.e. Pulmonary stenosis. The clinical findings (RV lift, a palpable systolic thrill at the second left intercostal space, a widely split second heart sound, and harsh ejection systolic murmur heard loudest at the second left intercostal space) are consistent with significant pulmonary stenosis. The RV lift is evidence of a pressure-loaded RV. The second heart sound is split due to delayed closure of the pulmonary valve. Pulmonary valve stenosis is heard loudest at the second left intercostal space and may be associated with a palpable thrill.

61.c. Balloon valvotomy. Echocardiography (TTE ± TEE) generally provides a definitive diagnosis in most patients with pulmonary stenosis. Doppler gradients from echo are adequate for deciding on the timing of intervention. Cardiac catheterization may be used to confirm the diagnosis of pulmonary stenosis and to exclude pulmonary hypertension in cases where this is a concern.

The cardiac catheterization results confirm RV hypertension (RV systolic pressure 70 mmHg) with a slightly elevated end-diastolic RV pressure (15 mmHg). RV hypertension should be differentiated from pulmonary hypertension: The finding of normal main PA pressures distal to the site of valvar stenosis (+ normal transpulmonary gradient) excludes pulmonary hypertension in this patient. Hence, vasodilator challenge and referral to a pulmonary hypertension are not indicated.

For patients with domed valvular pulmonary stenosis, balloon valvotomy is the treatment of choice. Balloon valvotomy is recommended in patients with a peak instantaneous Doppler gradient greater than 60 mmHg or a mean gradient greater than 40 mmHg (assuming less than moderate pulmonary regurgitation).1 There is no role for medical therapy in valvular pulmonary stenosis patients who meet criteria for intervention.

62.d. All of the above. Protein-losing enteropathy is a condition diagnosed in <5% of Fontan patients,18 in which protein is lost via the gut resulting in ascites, peripheral edema, and pleural and pericardial effusions. The precise cause of protein-losing enteropathy is unknown, although elevated systemic venous pressures appear to play a role. The diagnosis is made by measuring increased a1-antitrypsin in the stool.

Thromboembolic complications occur in up to 20% of patients with the slow passive flow in the Fontan circuit and the coagulation abnormalities consequent on liver congestion both playing a role.

Atrial tachyarrhythmias are very common in adults after the Fontan operation,19 the most common type being an atypical form of atrial flutter called “intra-atrial reentrant tachycardia” or IART. IART arises from macroreentrant circuits around surgical scars and patches and tends to be slower than typical flutter. Early recognition and treatment of IART is important for preventing complications such as thromboembolism, hemodynamic instability, syncope, and death. Unfortunately, recurrence of IART is common even in the setting of chronic antiarrhythmic medications and catheter-based ablation.

63.b. Weber-Osler-Rendu syndrome. Pulmonary arteriovenous fistula involves direct communication between pulmonary arteries and veins. Most patients have associated Weber-Osler-Rendu syndrome, a condition associated with the presence of multiple telangiectasias. Williams syndrome is associated with mental retardation, elfin facies, and supravalvular aortic and pulmonic stenosis. Bland-Garland-White syndrome involves the anomalous origin of the left coronary artery from the PA. Kartagener syndrome is associated with situs inversus, sinusitis, and bronchiectasis. Crouzon syndrome is associated with PDA and aortic coarctation (see also Table 9.4).

64.b. Pulmonary stenosis. Pulmonary stenosis is the most common cardiac abnormality (40%) seen in patients with Noonan syndrome. Other associations include AVSDs (13.8%), coarctation of the aorta (12.5%), and hypertrophic cardiomyopathy (8.8%).20 Although less common in Noonan syndrome patients, LVOT obstruction may be due to asymmetric hypertrophy and valvular or supravalvar aortic stenosis.21

65.a. 22q11.2 microdeletion. See Table 9.4.

66.e. Hypertelorism, bifid uvula, and arterial tortuosity are common features. LDS is an autosomal dominant syndrome caused by transforming growth factor-fl receptor gene mutations and characterized by the triad of (a) arterial tortuosity and aneurysms, (b) hypertelorism, and (c) bifid uvula or cleft palate.22 Almost all patients with LDS will develop aortic root dilatation that requires early surgical intervention due to the increased risk of dissection and rupture in these patients. Surgical intervention is recommended once the aortic root (or other aortic segments) is >4.0 cm or rapidly expanding (>0.5 cm over 1 year).23 Other aortic segments and branch vessels may also be involved. While there is overlap in the skeletal manifestations of Marfan syndrome and LDS (both demonstrate joint hyperlaxity, arachnodactyly, pectus deformity, and scoliosis), long limbs and tall stature are not characteristic of LDS.

67.c. Shone syndrome. The key learning point is that Shone syndrome/complex describes left-sided obstructive lesions and is therefore not implicated in pulmonary stenosis (Table 9.5).


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