Adult Congenital Heart Disease
C. Charles Jain
Sabrina D. Phillips
Bryan C. Cannon
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1. A 37-year-old female saw her primary care provider who heard a murmur and ordered an echocardiogram. The echocardiogram showed a large secundum ASD and the pulmonary veins all entered the left atrium normally. The right atrium and ventricle were moderately enlarged, there was mild tricuspid regurgitation, and estimated right ventricular systolic pressure (RVSP) was 28 mm Hg. On questioning, you find out that she is an avid marathon runner. She has had no symptoms or any decline in functional status. According to the 2018 AHA/ACC guidelines, what do you tell her?
A. There are insufficient data to guide what to do
B. Closing the defect would be reasonable
C. Since she is asymptomatic, there is a recommendation against closure
D. She needs a cardiac catheterization to confirm hemodynamic significance
1. (B) For asymptomatic patients with secundum ASDs, right heart enlargement, and no pulmonary hypertension, there is a 2A recommendation to proceed with ASD closure (compared to a grade 1 recommendation for those who are symptomatic). Her right heart is moderately enlarged and RVSP is normal. Therefore, there is no need for invasive Qp/Qs measurement as there is no concern for pulmonary hypertension.
2. A 45-year-old male with tetralogy of Fallot presents to establish care. His last cardiology visit was many years ago. He underwent transannular patch repair as a child. He has felt well and has no symptoms. He enjoys biking, riding about 20 miles, 5 days per week. On examination, his jugular venous pressure is normal, he has an RV heave, S1 is normal, S2 is single, and there is a 1/6 early peaking systolic ejection murmur at the base followed by a 2/6 diastolic decrescendo murmur. The liver is not palpable and there is no edema. Echo revealed moderate-severe pulmonary regurgitation. The RV is severely enlarged and has moderately decreased function. There is moderate tricuspid regurgitation. The LV has normal size and function. MRI revealed an RV end-diastolic volume index of 189 mL/m2 and RV ejection fraction of 36%. Exercise test showed exercise capacity at 107% age-predicted maximum. What is the most appropriate next step?
A. Pulmonary valve replacement would be reasonable now
B. Diagnostic catheterization to assess degree of pulmonary regurgitation
C. Follow-up in 6 months with repeat echocardiogram, MRI, and exercise test
D. Follow-up in 1 year with echocardiogram and MRI
E. Follow-up in 2 years, echo in 2 years, MRI and exercise test in 3 years
2. (A) The 2018 AHA/ACC ACHD guidelines varied from the original 2008 statement. The 2008 guidelines stated that pulmonary valve replacement for repaired tetralogy of Fallot was only recommended if the pulmonary regurgitation was severe and had any of the following symptoms: ≥moderate RV enlargement or dysfunction, ≥moderate tricuspid regurgitation, or symptomatic arrhythmias. The 2018 guidelines state that in asymptomatic individuals (Physiological Stage A) with ≥moderate pulmonary regurgitation, pulmonary valve replacement is reasonable if there are any two of the following: mild or moderate RV or LV systolic dysfunction, severe RV dilation (RVEDVI ≥160 mL/m2, RVESVI ≥80 mL/m2, or RVEDV/LVEDV >2.0), RVSP ≥2/3 systemic pressure, or progressive reduction in exercise tolerance. As this patient has moderate-severe pulmonary regurgitation and a severely enlarged RV with moderate systolic dysfunction, pulmonary valve replacement would be reasonable at this time.
3. A 54-year-old female with tetralogy of Fallot presents for annual evaluation. As a child she underwent repair with patch closure of the VSD, infundibular muscle resection, and pulmonary valvotomy. She has no other medical history. When you saw her last year, she described some slight decrease in energy. In the last 6 months, she noticed dyspnea even with climbing a single flight of stairs or doing chores around the house. On examination, her jugular venous pressure is moderately elevated, S1 is normal, S2 splits widely but varies with respiration, there is a 2/6 mid-peaking systolic ejection murmur at the base followed by a soft diastolic decrescendo murmur. The liver is palpable 3 cm below the costal margin and there is mild pitting edema in the lower legs. Echocardiogram reveals findings comparable to last year with a moderate to severely enlarged RV with mild systolic dysfunction, moderate pulmonary regurgitation with a pulmonary valve mean gradient of 22 mm Hg, severe tricuspid regurgitation, and a normal left ventricular size and function. What is the most appropriate next step?
B. Perform exercise testing
C. Follow-up in 6 months with repeat echocardiogram
D. Refer for percutaneous pulmonary valve replacement
E. Refer for surgery for pulmonary valve replacement and tricuspid valve repair
3. (E) This patient with repaired tetralogy of Fallot and moderate pulmonary regurgitation has progression of symptoms and is now NYHA Class III. The 2018 AHA/ACC guidelines recommend that for symptomatic patients with ≥moderate pulmonary regurgitation, pulmonary valve replacement is reasonable. Results of MRI, exercise testing, or repeat echocardiogram would not outweigh her symptoms and heart failure. Although tricuspid regurgitation may improve after percutaneous pulmonary valve implantation, given the severity of the TR and the tricuspid valve dilation, surgery may be more effective for this patient. However, when answering a question similar to this on the boards realize that guideline recommendations (hence the correct answer on the test) and clinical practice for the individual patient may differ regarding choice of catheter versus surgical intervention.
4. A 33-year-old male with tetralogy of Fallot is admitted with heart failure. His surgical history includes patch closure of the VSD and RVOT transannular patch augmentation at age 1, followed by pulmonary valve replacement at age 21, with subsequent pulmonary valve replacement and tricuspid valve repair at age 31. Prior to his last surgery, his right ventricle was severely enlarged and had severe systolic dysfunction. His ECG is shown in Figure 16.1.
Telemetry reveals brief runs of nonsustained ventricular tachycardia (VT). Echocardiogram shows unchanged appearance of the right ventricle, normal pulmonary prosthesis function, and moderate tricuspid regurgitation. But now the left ventricle is enlarged with an ejection fraction of 40% and moderate mitral regurgitation. Cardiac MRI shows severe RV enlargement and dysfunction along with extensive scarring. Regarding potential ICD implantation, which of the following is consistent with guideline recommendations?
A. Place an ICD at this time
D. ICD only recommended if he had prior cardiac arrest or cardiogenic syncope
4. (A) According to the 2018 AHA/ACC guidelines, ICD implantation would be reasonable for primary prophylaxis in a patient with tetralogy of Fallot given numerous risk factors (LV dysfunction, nonsustained VT, QRS duration ≥180 ms, and extensive RV scarring). While proceeding with electrophysiology study and potential ablation is reasonable, these are not necessary prior to ICD implantation.
5. A 38-year-old male presents for progressive decline in exertional capacity over the past year. He has a history of tricuspid atresia, initially palliated with a left-sided subclavian artery to pulmonary artery (PA) shunt. At 8 years old he had a nonfenestrated atriopulmonary Fontan. Thereafter, numerous venovenous collaterals developed. He had ablation for atrial arrhythmias and no recent recurrence or need for chronic antiarrhythmic medication use. Systemic oxygen saturation was 91%. ECG shows sinus rhythm. Echocardiogram reveals normal left ventricular ejection fraction, mild mitral regurgitation, and a patent Fontan pathway without Doppler evidence of obstruction. Given his symptoms, he underwent cardiac catheterization. Mean right atrial pressure was 20 mm Hg, mean right and left pulmonary artery pressures were 19 mm Hg, and mean pulmonary capillary wedge pressure was 11 mm Hg. Angiography demonstrated no Fontan pathway obstruction or distal branch PA stenosis. What is the most appropriate next step?
A. Refer for Fontan revision
B. Refer for cardiac transplant
C. Start epoprostenol therapy
D. Start sildenafil therapy
E. Start nocturnal oxygen therapy
5. (D) According to the AHA/ACC 2018 guidelines, pulmonary vasoactive medications are reasonable to use in patients with Fontan physiology for improvement in exercise tolerance. He has a borderline increased transpulmonary gradient of 8 mm Hg, suggestive of pulmonary vascular disease in a patient after Fontan. PDE5 inhibitors such as sildenafil and endothelin antagonists have been utilized in this patient population. There are limited data regarding prostacyclin analogues (e.g., epoprostenol); and furthermore, this medication requires continuous intravenous infusion, thus it would not be preferred over oral sildenafil therapy. Oxygen therapy is unlikely to improve his saturation significantly given his known venovenous collaterals. Fontan revision is mostly recommended when there are refractory atrial tachyarrhythmias. While transplant referral may be reasonable, medical therapy is a more appropriate next step
6. A 67-year-old female is referred for a recently diagnosed small membranous VSD. She reports that she was told as a child that she had a “hole in her heart,” but that it would likely close. She recently saw a new primary care doctor who heard a murmur and obtained an echocardiogram. The echo showed the small membranous VSD, normal biventricular size and function, trivial aortic regurgitation, mild tricuspid regurgitation, and an estimated right ventricular systolic pressure of 29 mm Hg. Your examination reveals normal S1 and S2 with normal P2 component, a high-pitched 3/6 holosystolic murmur heard throughout the precordium and loudest at the left lower sternal border. She denies any symptoms and exercises regularly. What is the most appropriate next step?
A. No further follow-up is necessary
B. Cardiac MRI
C. Follow-up in 1 year with repeat echocardiogram and cardiac MRI
D. Follow-up in 3 years with repeat echocardiogram
E. Refer for VSD closure
6. (D) According to the 2018 AHA/ACC guidelines, this patient is IA with a simple congenital abnormality and is Physiological Stage A with no symptoms. Physical examination and echocardiogram are reassuring that this is a small, restrictive VSD with no left heart enlargement or pulmonary hypertension. There is no significant associated valve disease. Thus, she likely will never need closure of this VSD due to the shunt. But routine follow-up is recommended to assess progression of aortic valve regurgitation. Aortic valve cusp prolapse may occur in patients with membranous VSDs. The guidelines do not have recommendations for use of cardiac MRI in long-term follow-up of VSDs in adults.
7. A 31-year-old male was referred for a bicuspid aortic valve. Prior echo and MRI evaluation have confirmed there was no coarctation of the aorta. He is in the military and the military physician is concerned that there is severe aortic valve regurgitation. The patient denies any symptoms. Current physical examination and echo are consistent with severe aortic regurgitation. As you review his echocardiogram, which of the following findings could warrant surgery at this time?
A. LV end-diastolic dimension of 72 mm
B. LV end-systolic dimension of 52 mm
C. LV ejection fraction 56%
D. Sinus of Valsalva of 46 mm
E. Mid-ascending aorta of 51 mm
7. (B) According to the AHA/ACC Valve guidelines, surgery is indicated for asymptomatic individuals with severe aortic regurgitation if there is significant LV enlargement (LVESV >50 mm, LVESVi >25 mm/m2) or dysfunction (LV ejection fraction <55%). In addition, in patients with bicuspid aortic valves, aortic dilation >55 mm in those without risk factors (family history, rapid growth, or coarctation) or >50 mm in those with risk factors, is an indication for ascending aorta and valve replacement.
8. A 27-year-old female is admitted with new-onset atrial fibrillation with rapid ventricular response. She has a history of tricuspid atresia, status post bidirectional cavopulmonary anastomosis (Glenn), and lateral tunnel Fontan operations. Her ECG shows an atrial tachyarrhythmia with ventricular rate of 160 bpm, which has not improved despite IV diltiazem. You start her on anticoagulation, perform a transthoracic echo and a TEE that show no thrombus and patent Glenn and Fontan pathways. DC cardioversion successfully converts her to sinus rhythm. You elect to start sotalol therapy. Which of the following would be a significant risk factor for complications of sotalol?
A. Concurrent use of warfarin
B. Concurrent use of apixaban
C. Concurrent use of dabigatran
8. (D) Sotalol is a Class III antiarrhythmic, blocking the IKr channel, thus it delays ventricular repolarization and can prolong the QT interval. Excessive prolongation of the QT interval can lead to polymorphic VT (torsades de pointes). This is more likely to occur with hypokalemia, hypomagnesemia, and bradycardia. The type of anticoagulant does not make torsades more likely. The 2018 AHA/ACC guidelines recommend anticoagulation with a vitamin K antagonist (i.e., warfarin) in all patients after Fontan with atrial arrhythmias and no contraindications to anticoagulation. However, novel agents are currently under investigation for this purpose also.
9. A 29-year-old male with a history of tetralogy of Fallot status post transannular patch repair in infancy presents for routine follow-up. He has recently noticed some abdominal swelling and has not been able to keep up with his father on family hikes. Examination reveals jugular venous distention to the mandible while upright with prominent x and y descents. There is a 1+ RV heave, S1 is normal, S2 is notable for a diminished P2, 1/6 systolic ejection murmur, and a 2/6 very short early diastolic murmur at the base. There is also an early diastolic sound heard at the left lower sternal border. The liver is enlarged 4 cm below the costal margin. Echocardiogram reveals severe pulmonic regurgitation with a mildly dilated right ventricle with normal systolic function. Chest radiograph is shown in Figure 16.2. Which of the following is the most appropriate next step?
A. Refer for percutaneous pulmonary valve replacement
B. Recommend routine follow-up in 1 year
C. Perform further evaluation for constrictive pericarditis
D. Recommend regular exercise routine
9. (C) This patient with prior surgical repair of tetralogy of Fallot has now developed right-sided heart failure from constrictive pericarditis and severe pulmonary regurgitation. This is suggested by his elevated jugular venous pressure and the contour with prominent descents classic for constrictive physiology. In addition, he has a pericardial knock. The lateral film shows calcification of the diaphragmatic pericardium. Further evaluations with echocardiography, MRI, and/or catheterization are important prior to surgical referral. Percutaneous pulmonary valve replacement would not address the pericardial disease. He has newly diagnosed heart failure, so recommending routine follow-up or exercise without further assessment is not appropriate.
10. A 36-year-old male with a history of bicuspid aortic valve was referred to you. He had a history of infective endocarditis with severe aortic regurgitation, which was treated with IV antibiotics and subsequent Ross procedure when he was 18 years old. He had subsequent degeneration of the pulmonary homograft with stenosis and underwent placement of a 27-mm homograft conduit. He now has progressive fatigue and dyspnea on exertion. Examination reveals normal jugular venous pressure, normal carotid impulses, a prominent RV heave and palpable P2, normal S1, S2 notable for persistent splitting with a loud P2, a harsh 3/6 systolic ejection murmur with a mid to late peak at the base, and no diastolic murmurs. Echocardiogram reveals normally functioning neo-aortic valve without root dilation, normal LV size and function, and moderately enlarged RV with reduced systolic function. The pulmonary conduit valve is difficult to visualize but there is a mean gradient of at 52 mm Hg and no clear regurgitation. The estimated right ventricular systolic pressure is 93 mm Hg. What do you recommend?
B. Cardiac CTA
C. Exercise testing with measurement of VO2
D. Cardiac MR to assess indexed RVEDV
10. (B) There are multiple complications of the Ross procedure including pulmonary homograft degeneration, neo-aortic valve degeneration, aortic root dilation, and coronary ostial narrowing/occlusion. This patient had degeneration of his pulmonary homograft requiring placement of a conduit and this has now degenerated. He has symptomatic RV-PA conduit obstruction and warrants intervention. Given the loud and palpable P2, this is unlikely to purely be valvular stenosis and rather there is sub- or supravalvular stenosis as well. Given the multilevel obstruction, he will need either surgical replacement of the entire conduit or percutaneous valve replacement with stenting of the conduit. CT imaging specifically to evaluate the extra-anatomic conduit and the course of the coronary arteries relative to the conduit will be essential for either percutaneous or surgical planning. In this situation, CT imaging is superior to MR.
11. A 56-year-old female is referred with a newly diagnosed secundum ASD detected by echo during a work-up for palpitations. ECG demonstrates atrial fibrillation without rapid ventricular response. The shunt is exclusively left to right on echo, the right heart is severely dilated, and the TR velocity predicts an RVSP of 34 mm Hg. What is your plan of care and counsel to the patient?
A. Referral for device closure with expectation that her life expectancy is normal
B. Referral for surgical closure with expectation that her life expectancy is normal
C. Referral for surgical closure and Maze procedure with expectation that her life expectancy will be less than age-matched peers
D. Referral for cardiac cath to determine PVR
11. (C) The shunt is exclusively left to right and there is RV enlargement. Therefore, the shunt is large. In this scenario, PVR is likely low enough that it can be argued that calculation of pulmonary pressures and resistance at cardiac cath are not essential. She will require some form of coronary artery imaging given her age >40 to 45 years. Life expectancy with a large ASD is reduced in adults >40 years, with arrhythmia and elevated PA pressures. Treating her solely with device closure will not be sufficient to address the Afib. Surgical closure with Maze is likely the best course. This would also be true if there was severe TR associated with the ASD. Tricuspid valve repair could be addressed at time of surgical ASD closure.
12. What is one of the earliest manifestations of cirrhosis from Fontan associated liver disease?
B. Elevation of alkaline phosphatase
C. Elevation of transaminases
D. Prolongation of INR
E. Elevated alpha-fetoprotein level
12. (A) One of the earliest signs of cirrhotic liver disease from any etiology is thrombocytopenia. It is present in at least 70% of patients with cirrhosis. The pathophysiology is due to splenic sequestration, decreased production of thrombopoietin (TPO), and decreased bone marrow production. A platelet count <100,000 is a marker for advanced liver disease and increased mortality. Elevation of biomarkers that detect synthetic dysfunction appear late in FALD. Elevation of the INR, in a patient not receiving a vitamin K antagonist, may be an earlier manifestation of synthetic liver dysfunction. Alpha fetoprotein is a marker for hepatocellular carcinoma.
13. A 20 year old, new to your practice, with repaired tetralogy of Fallot had no cardiology follow-up for the last 10 years. He states that he is asymptomatic and able to do all activities of daily living without limitation. He does not exercise regularly and works as a toll booth operator. Echo demonstrated severe pulmonary valve insufficiency. Cardiac MRI demonstrates an RV end-diastolic volume index of 130 cc/m2. What is the next best step in his care?
A. Return to clinic in 6 months with repeat echo
B. Refer for surgical or percutaneous pulmonary valve replacement
C. Exercise stress test for measurement of VO2
D. Return to clinic in 12 months with repeat echo
13. (C) Objectively assessing functional capacity and VO2 can be very helpful during the assessment of adults with CHD. Arrhythmias that may prompt earlier intervention may be provoked with exercise. In an adult with ToF and severe residual PR, most would recommend PVR if there are overt symptoms, new arrhythmia, RVEDVi >150 mL/m2, RV/LV >2:1, > mild TR, > mild RV systolic dysfunction, or any LV dysfunction.
14. Which of the following is an expected maternal cardiovascular adaptation to pregnancy?
A. Increase in systemic vascular resistance by 30%
B. Increase in colloid oncotic pressure by 20%
C. Little change in blood pressure during pregnancy
D. Decrease in heart rate during the second half of pregnancy
E. Increase in pulmonary vascular resistance by 20%
14. (C) During a normal pregnancy, the following physiologic changes occur: blood volume increases by 40%, systemic and pulmonary vascular resistance decrease, and heart rate increases. This all leads to a 30% increase in cardiac output. Blood pressure is the least affected by pregnancy.
15. A 20-year-old female with a history of a celiac artery aneurysm is found to have a dilated aortic root measuring 48 mm, and the physical examination finding shown in Figure 16.3. BP is 120/50 mm Hg.
The next best step is:
A. Initiate beta-blocker therapy and repeat imaging in 6 months
B. Initiate ARB therapy and repeat imaging in 6 months
C. Initiate calcium channel blocker therapy and repeat imaging in 6 months
D. Perform TEE to quantitate the degree of aortic regurgitation
E. Refer for aortic root replacement
15. (E) The image shows a bifid uvula. The patient has peripheral aneurysms. She likely has Loeys-Dietz. These patients have increased risk of aortic dissection when the aortic root is >40 mm. Surgical intervention is recommended in Loeys-Dietz patients at 40 mm. In this patient, valve-sparing root replacement may not be possible if there already is significant aortic valve regurgitation. Prior to reaching 40 mm, aggressive medical management with ARBs is indicated for all patients with Loeys-Dietz.
16. Which of the following is a major criterion for bacterial endocarditis?
A. Roth spots
B. Janeway lesions
C. New partial dehiscence of a prosthetic valve
D. Change in aortic regurgitation from mild to severe
E. One of two blood culture bottles positive for strep
16. (C) Review the modified Duke criteria (see below). A and B are minor criteria, D (changing degree of regurgitation) does not satisfy a major criterion, E—both culture bottles should be positive to satisfy a major criterion.
Blood culture positive for IE
Typical microorganism consistent with IE from two separate blood cultures: Viridans streptococci, Streptococcus bovis, HACEK group, Staphylococcus aureus, or community-acquired enterococci in the absence of a primary focus … or … Microorganisms consistent with IE from persistently positive blood cultures defined as follows: At least two positive cultures of blood samples drawn >12 hours apart; or all of three or a majority of ≥four separate cultures of blood (with first and last sample drawn at least 1 hour apart)
Single positive blood culture for Coxiella burnetii or antiphase 1 IgG antibody titer >1:800. Evidence of endocardial involvement
Echocardiogram positive for IE (TEE recommended for patients with prosthetic valves, rated at least “possible IE” by clinical criteria or complicated IE [paravalvular abscess]; TTE as first test in other patients) defined as follows:
Oscillating intracardiac mass on valve or supporting structures, in the path of regurgitant jets, or on implanted material in the absence of an alternative anatomic explanation; or
New partial dehiscence of prosthetic valve; or
New valvular regurgitation (worsening, changing or preexisting murmur are not sufficient)
17. Which patient should be screened with a hepatitis C antibody test?
A. 30 year old with a history of intranasal cocaine use, but no IV drug use
B. 18-year-old s/p Norwood, no history of drug use
C. 23-year-old female with small VSD, no prior surgery, no drug use, no transfusions
D. 30-year-old s/p surgical repair of a large membranous VSD in infancy
17. (A) Intranasal cocaine use is a risk for HCV infection. The patients described in (B) and (D) had blood transfusions, but after 1992 and neither were born before 1965. The patient described in C has no risk factors.
The following need screening for hepatitis C infection:
Born between 1945 and 1965
Injection drug use or intranasal illicit drug use
Needle stick/heath care exposures
Children of HCV infected mothers
Transfusion or organ transplant before 1992
Unexplained liver disease
18. A 22-year-old female with a St. Jude mechanical mitral prosthesis is 17-week gestation. She is referred for a second opinion on anticoagulation management; currently using subcutaneous heparin (unfractionated). What is the most appropriate therapy for this patient?
A. Continue subcutaneous heparin with aPTT monitoring
B. Switch to IV heparin with aPTT monitoring
C. Start warfarin with target INR 3.0
D. Switch to LMWH injection daily with anti-Xa monitoring
E. Start dabigatran
18. (C) She needs to start warfarin therapy to avoid valve thrombosis. Subcutaneous heparin is an inferior choice for therapeutic anticoagulation long term and IV heparin long term is not practical. LMWH can be used, but needs weekly anti-Xa monitoring, not daily. NOAC/DOACs have not been approved for use in pregnancy.
19. A 35-year-old male with prior St. Jude aortic valve replacement and normal LV function presents for management of anticoagulation prior to vasectomy. What is the most appropriate recommendation?
A. Stop warfarin 3 to 5 days prior to vasectomy, resume warfarin on the evening of procedure
B. Stop warfarin 5 days prior to vasectomy, start lovenox 1 mg/kg twice daily 3 days prior to surgery with last dose 12 hours prior, resume lovenox and warfarin on the evening of procedure, continue lovenox until INR >2
C. Stop warfarin 5 days prior to vasectomy, start lovenox 1 mg/kg twice daily 3 days prior to surgery with last dose 24 hours prior, resume lovenox and warfarin on the evening of procedure, continue lovenox until INR >2
D. Stop warfarin 5 days prior to vasectomy, start lovenox 1 mg/kg twice daily 3 days prior to surgery with last dose 24 hours prior, resume warfarin on the evening of procedure
19. (A) Patients with bileaflet mechanical aortic valve replacements and no other risk factors for thrombosis do not need bridging.
20. A 23-year-old female presents at 12-week gestation for cardiology consultation. She reports a history of “heart surgery” in childhood. She has not seen a cardiologist for 8 years. Which patient characteristic is the most predictive of increased risk of maternal and fetal complications?
A. NYHA class II heart failure symptoms
B. Prepregnancy peak VO2 75% of predicted
C. Room air oxygen saturation of 89%
D. Bioprosthetic aortic valve with normal function
20. (C) Cyanosis is an important risk factor for maternal and fetal complications. While baseline exercise intolerance and NYHA class II symptoms are important to note, cyanosis is a more important risk factor. Bioprosthetic valves with normal function confer less risk than mechanical valves.
21. A 35 year old with Eisenmenger syndrome and chronic secondary erythrocytosis has been undergoing phlebotomy every 3 months by another physician. Baseline oxygen saturation is 75% in room air. Echo demonstrates a large VSD with right-to-left shunting but good biventricular function. What is this patient’s greatest risk for stroke?
A. Iron deficiency
C. Hgb = 20 g/dL
21. (A) Microcytosis caused by iron deficiency in patients with secondary erythrocytosis creates the greatest risk for thromboembolic events. Phlebotomy for these patients is rarely performed in the current era. It is reserved for patients with neurologic symptoms or prior to surgery. Hydration is also a successful therapy for these patients. Thrombocytopenia and mild leukopenia are characteristic of patients with unrepaired cyanotic CHD.
22. In which of the following patients is pregnancy absolutely contraindicated?
A. 20 year old with bicuspid aortic valve and mean gradient of 30 mm Hg
B. 20 year old with Marfan syndrome and ascending aorta diameter of 32 mm
C. 20 year old with Ebstein anomaly, severe RV enlargement, and tricuspid regurgitation
22. (D) Women with Eisenmenger syndrome are at exceptionally high risk of complication and death during pregnancy and the peripartum period. Pregnancy should be avoided in these patients. The patient described in answer A has one predictor of cardiac complications (predicted risk 25%) but has a low risk of death. Patients with Marfan syndrome can have dissection during pregnancy, but pregnancy is not absolutely contraindicated unless the aorta is >40 mm. The patient described in answer C has a risk of cardiac complications, but no absolute contraindication.
23. A 25-year-old female with d-TGA underwent arterial switch operation in infancy. Twice while shoveling snow, she developed a dull ache between her scapulae. Symptoms abated with rest. She walks up to 3 miles per day without symptoms. In addition to routine echocardiography, you would recommend which of the following?
A. Coronary angiography
B. Transesophageal echocardiogram
C. Fasting lipid panel
D. Cardiac MRI with gadolinium
E. No additional evaluation
23. (A) The arterial switch operation for d-TGA requires reimplantation of coronary artery buttons. There is risk of both early and late coronary obstruction. There is evidence that the risk may be greater with single coronary artery anatomy. Symptoms of coronary ischemia may present in atypical fashion. The history of exertional chest pain that resolved with rest warrants evaluation. Coronary angiography is the gold standard for coronary assessment, although computed tomography angiography may be appropriate.
24. A 40-year-old female with d-TGA had a Mustard procedure. On examination, her heart rate is 40 bpm and regular. Resting oxygen saturation is 92%. Jugular venous pressure is elevated 10 cm above the angle of the sternum. ECG shows junctional rhythm. During exercise testing, she has sinus rhythm with a peak heart rate of 65 bpm and with poor exercise capacity. Prior to transvenous pacemaker placement, evaluation should include which of the following?
A. Thrombophilia laboratory assessment
B. Coronary artery CTA
C. Electrophysiology study to evaluate for inducible ventricular tachycardia
D. Cardiac catheterization to evaluate for SVC obstruction and baffle leak
E. Cardiac catheterization to evaluate for proximal coronary obstruction
24. (D) Mustard and Senning atrial switch procedures are associated with sinus node dysfunction and atrial arrhythmias. Other complications are baffle leaks and baffle obstruction. Placement of transvenous, intracardiac pacemaker leads may worsen baffle stenosis, and paradoxical embolus may occur across a baffle leak. Incorrect positioning of ventricular leads across the baffles is occasionally observed. Pacemaker placement in this patient should be performed at a center with experience in adult congenital cardiac care. There is no history given for thrombophilia. While sudden death does occur in patients with repaired d-TGA, there is no history of atrial or ventricular tachycardia in this patient even with exercise.
25. A 20 year old presents for his first ACHD visit. He has not seen a cardiologist for the last 10 years. His medical record describes a grade II/VI high-pitched holosystolic murmur consistent with known small membranous VSD. On current examination, a right ventricular heave is present, and a prominent thrill is palpable at the left upper sternal margin. Which of the following is the most likely diagnosis?
A. Supravalvular pulmonary stenosis
B. Double-chambered right ventricle
C. Increase in left ventricular pressure
D. Decrease in VSD size
E. Increase in VSD size
25. (B) Isolated membranous VSD is associated with the development of DCRV that may occur in adulthood. DCRV is defined by a proximal portion of the RV that is at high pressure, separated by abnormal muscular hypertrophy from a distal low-pressure zone. The pulmonary arterial pressure is distal to the obstruction and should be normal. The development of DCRV is often heralded by an increase in murmur intensity, onset of a thrill, and findings of RV pressure loading including an increased right ventricular impulse and RVH by ECG. Surgical resection of the muscle bundle is needed.
26. A 48-year-old male with d-TGA, status post Mustard operation in infancy presents with progressive dyspnea. Heart rate is 90 bpm and blood pressure 122/78 mm Hg. Examination reveals mildly elevated jugular venous pressure, a prominent RV heave, normal S1 and S2, and 2/6 holosystolic murmur at the left lower sternal border with an early diastolic filling sound. The liver cannot be palpated. Echocardiogram reveals severe systemic right ventricle dilation. Estimated ejection fraction 15%, moderate systemic AV valve regurgitation, and estimated pulmonary artery systolic pressure of 60 mm Hg. A CT shows patent coronary arteries and systemic venous baffles. What do you tell him regarding management options?
A. He should begin pulmonary vasodilators
B. There are insufficient data to recommend medical therapy to improve function
C. He should be started on warfarin therapy
D. He should undergo replacement of the systemic AV valve
26. (B) The 2018 ACHD guidelines concluded that at this time there is insufficient evidence to recommend medications, such as ACE inhibitors or beta blockers, for patients with failing systemic right ventricles. His pulmonary hypertension is likely postcapillary in nature and pulmonary vasodilators would worsen his symptoms. His AV valve regurgitation is only moderate and likely due to ventricular dilation; furthermore, his ventricle may not tolerate AV valve replacement. There is no evidence to suggest obstruction of the systemic venous baffles given only mild jugular venous distention, no hepatomegaly, and patent baffles demonstrated on echocardiogram.
27. A 65-year-old female presents for preoperative assessment prior to knee surgery. She has a history of coarctation of the aorta which was repaired surgically in infancy and also bicuspid aortic valve for which she underwent replacement with a 25-mm bileaflet mechanical valve last year. She has no other significant past medical history besides hypertension. Her medications include warfarin (INR goal 2.5), aspirin 81 mg daily, and losartan 50 mg daily. Echocardiogram reveals a normally functioning aortic prosthesis with mean gradient of 7 mm Hg and trivial prosthetic regurgitation. Peak gradient across the coarctation is 6 mm Hg and cross-sectional imaging performed prior to cardiac surgery last year showed no significant recoarctation. What is the appropriate anticoagulation regimen prior to surgery?
A. Continue warfarin and aspirin until the day of surgery
B. Stop warfarin and aspirin 5 days prior to surgery, initiate IV heparin 2 days prior to surgery
C. Stop warfarin 5 days prior to surgery, continue aspirin, initiate enoxaparin 3 days prior to surgery
D. Stop warfarin 5 days prior to surgery, continue aspirin, no bridging needed
E. Stop warfarin and aspirin 5 days prior to surgery, no bridging needed
27. (D) The patient has a bileaflet mechanical aortic valve which functions normally. There is a relatively low likelihood of thrombosis with a brief period of holding anticoagulation. She has no additional risk factors for thrombosis (e.g., prior venous thromboembolism, atrial fibrillation, or solid organ malignancy), it is appropriate to hold warfarin 5 days prior to surgery, continue aspirin, and no bridging is needed. Alternatively, if she had risk factors for thrombosis, malfunctioning aortic prosthesis, or if the mechanical prosthesis was in another position, then bridging with a heparin product would be recommended.
28. A 24-year-old female presents to the ACHD clinic at 12-week gestation of her first pregnancy. She was recently diagnosed with a bicuspid aortic valve. She has never had an intervention. Her echocardiogram was performed 6 months ago. It demonstrated mild eccentric aortic valve regurgitation, a bicuspid aortic valve with fusion between the right and left cusps. Mean gradient was 14 mm Hg. Left ventricular wall thickness, chamber dimensions, and ejection fraction were all within the normal range. Her ascending aorta measured 32 mm at the sinus, 37 mm at the mid-ascending level. What would you recommend?
A. Proceed with pregnancy, expect vaginal delivery
B. Proceed with pregnancy, expect cesarean section for delivery
C. Obtain an MRI of the thoracic aorta before giving an opinion
D. Start an angiotensin receptor blocker
E. Recommend immediate termination
28. (C) This young woman has never had alternative imaging of her aorta. Since she has dilation of the ascending aorta, it would be appropriate to perform more extensive imaging at least once early in adulthood and prior to pregnancy. She has mild aortic valve stenosis and regurgitation and likely would tolerate pregnancy well. Unless obstetrical complications occur, one would expect a normal spontaneous vaginal delivery. ACE inhibitors and angiotensin receptor blockers are contraindicated during pregnancy.
29. A 24-year-old female presents at 6-week gestation of her first pregnancy. She was born with a bicuspid aortic valve and eventually required aortic valve replacement with mechanical prosthesis. She tells you that she usually runs her INR “a bit high” at 3.0 to 3.5. Her average daily dose of Warfarin is 4 mg daily. How would you manage her anticoagulation during this pregnancy?
A. Discontinue Warfarin immediately and begin low-molecular-weight heparin
B. Continue Warfarin at the present dose, discontinue at 36-week gestation and switch to low-molecularweight heparin
C. Continue Warfarin and aspirin throughout pregnancy
D. Discontinue Warfarin immediately and start low-molecular-weight heparin, resume warfarin therapy at 12-week gestation
E. Terminate pregnancy
29. (B) It is considered safe to continue Warfarin at a dose of 5 mg or less daily if an INR of 3.0 can be obtained during pregnancy. The risk of warfarin embryopathy at a dose of less than 5 mg daily is felt to be low enough that one could continue Warfarin during pregnancy. Alternatively, if one cannot maintain an INR of 3.0 on this dose and need a higher dose, then Warfarin should be discontinued by the 6th week of gestation and resumed after the 12th week of gestation. Low-molecular-weight heparin 1 mg/kg twice daily should be administered. The patient should have her Anti-Xa level checked weekly or twice weekly depending on the clinical situation. Anti-Xa levels of 0.7 to 1.3 should be obtained. If this is a mechanical AV valve, one would want to have a higher Anti-Xa level. Warfarin should be discontinued at 36-week gestation in anticipation of delivery. Patients should be switched to low-molecular-weight heparin at this time. The last dose of low-molecular-weight heparin should be 12 hours prior to planned delivery. Postpartum if there is no unexpected bleeding, warfarin therapy can be reinstituted while bridging with low-molecular-weight heparin until the INR is at least 2.0. Pregnancy is considered a hypercoagulable state due to the elevated estrogen levels. Patients remain in this state of hypercoagulability in the first several weeks postpartum.
30. A 20-year-old female with a history of surgical repair of a secundum ASD and short arms with the thumbs that are displaced proximally along the length of the arm comes to clinic in anticipation of pregnancy. She asks about the risk of her baby inheriting her genetic syndrome. Assuming complete penetrance, what percent would you quote to her?
30. (C) The woman likely has Holt-Oram syndrome (radial hypoplasia associated with secundum atrial septal defect). It is inherited on an autosomal dominant fashion; therefore 50% of her offspring would be expected to inherit this syndrome assuming complete penetrance.
31. She further asks, if her baby has the same syndrome, what is the chance the infant will have any form of congenital heart disease (CHD)?
E. 3% to 5%
31. (B) See Answer 30. In patients with Holt-Oram syndrome, 75% have CHD.
32. A 30-year-old female presents to the ACHD clinic complaining of shortness of breath, intermittent palpitations, and dyspnea with exertion. She notes that she was able to run ten miles per day fairly briskly when she was 20 years old. Now she is barely able to cover a mile without feeling exhausted. A 12-lead electrocardiogram was performed and demonstrated sinus rhythm and an rSR’ pattern in lead V1. Physical examination demonstrates a right ventricular lift, a normal first sound, and widely fixed and split second sound; the intensity of the pulmonary component of the second heart sound was normal. There is a 2/6 systolic ejection murmur at the left upper sternal border and 2/4 low-pitched diastolic rumble at the lower sternal border. No third or fourth heart sounds. No rubs. The abdomen is soft and nontender. There is no hepatosplenomegaly. Jugular venous pulsations are normal. Transthoracic echocardiography demonstrated a centrally located secundum ASD with adequate rims. Pulmonary venous connections were normal and there was only mild tricuspid valve regurgitation. Based on this clinical scenario and imaging, what is the next most appropriate step?
A. Cardiac catheterization to measure Qp/Qs and pulmonary vascular resistance
B. Transesophageal echocardiography
C. Cardiac MRI
D. Either surgical closure or device closure based on patient preference
E. No intervention, patient has irreversible pulmonary hypertension
32. (D) This case scenario demonstrates a typical presentation of a young adult with a previously undiagnosed ASD. Transthoracic imaging prior to intervention demonstrates a centrally located defect that is amenable to device closure. This defect can also be closed surgically. If the pulmonary veins were adequately visualized entering the left atrium, then no further imaging is required. Her clinical examination is consistent with a large left-to-right shunt from an atrial level defect (presence of diastolic rumble). There is no evidence on echocardiography or clinical examination for pulmonary hypertension, therefore cardiac catheterization would not be needed.
33. In the patient from the previous question, the source of the diastolic murmur is?
A. Flow through an ASD
B. Flow across the pulmonary valve
C. Flow across the tricuspid valve
D. Flow across the mitral valve
E. It is a normal murmur in children
33. (C) The diastolic flow rumble in a patient with an ASD is due to excess flow across a normal tricuspid valve. Presence of this sound is associated with a Qp/Qs >1.5 to 2.0. The systolic murmur, similarly, is due to excess flow across an otherwise normal pulmonary valve. Flow across the ASD is of low velocity and inaudible. Young children with large VSDs will have a diastolic flow murmur due to flow across the mitral valve. Diastolic murmurs are not “normal.”
34. (C) The 2013 ACC/AHA guidelines recommend either high intensity or moderate intensity statin regimen for patients with an ASCVD risk score that is ≥7.5%. Gemfibrozil and Niacin are not statins. Aspirin therapy is not contraindicated but would not address this issue directly. Losartan does not treat hyperlipidemia
35. A 25 year old with a history of tricuspid valve atresia who had an atrial-pulmonary Fontan connection performed at age 8 was seen for a routine follow-up visit. He recently started feeling palpitations. A Holter monitor was performed. It demonstrated sinus bradycardia and brief (10 beat) runs of nonsustained supraventricular tachycardia. An echocardiogram demonstrated a left ventricular ejection fraction of 45%. There is trivial mitral valve regurgitation. The right atrium is dilated. There is spontaneous echo contract demonstrated in the inferior vena cava as it enters the right atrium. There is a patent fenestration. The mean gradient through the fenestration is 7 mm Hg.
Which of the following is the best anticoagulation strategy in this patient?
A. No anticoagulation
D. Aspirin and warfarin
E. Aspirin and clopidogrel
35. (C) The patient has a residual right-to-left shunt and atrial arrhythmia with spontaneous echo contrast in the right atrium. Risk of paradoxical embolus is important. Based on the ACHD guidelines, warfarin therapy is indicated.
36. In the patient described in the previous question, the Fontan fenestration gradient correlates best with which of the following?
A. Right atrial mean pressure
B. Left atrial mean pressure
C. Left ventricular end-diastolic pressure
D. Pulmonary capillary wedge pressure
E. Transpulmonary gradient
36. (E) The fenestration gradient is equal to the transpulmonary gradient (RA or Fontan pressure minus LA pressure). Values of 5 to 8 mm Hg usually are expected. An increased gradient correlates with obstruction in the Fontan circuit, lungs or pulmonary veins. It is primarily dependent on total pulmonary vascular resistance. Elevated LA or ventricular end-diastolic pressures do not change the transpulmonary gradient. A low fenestration gradient is associated with hypovolemia.
37. A 25 year old is referred for evaluation of a murmur that was recently heard during a general physical. On examination, there is a regular rate and rhythm. No lift or thrill. First heart sound is normal in intensity. Second heart sound is hard to distinguish. There is a 3/6 continuous murmur, heard best at the left sternal border. It peaks around the second heart sound. No third or fourth heart sounds. No rubs. Right radial, right carotid, and femoral pulses are all easily palpable. Blood pressure is 120/40 mm Hg in both the right and left arms. Which test is most likely to define the source of the murmur?
B. Transesophageal echocardiogram
C. Transthoracic echocardiogram
D. Exercise ECG
E. Dobutamine stress echocardiogram
37. (C) The murmur described in the examination is continuous and it peaks around the second heart sound—typical of a PDA. An audible PDA usually can be visualized with transthoracic echocardiography. If that imaging is suboptimal, CT or MRI of the chest may be helpful. If the PDA is audible, especially in a patient with a wide pulse pressure, one would expect left ventricular and left atrial enlargement. This patient should undergo closure of the PDA, usually via a transcatheter procedure.
38. An 18 year old with unrepaired pulmonary valve atresia/VSD (PA/VSD) comes to clinic for an annual evaluation. On examination, the patient has upper and lower extremity clubbing. There is a regular rate and rhythm. A parasternal lift is present but no thrill. First heart sound is normal. Second heart sound is single. There is a 3/6 continuous murmur which is heard best at the right scapula. No third or fourth heart sounds. Blood pressure is 120/40 mm Hg in both the right and left arms. The origin of the murmur is most likely:
A. Right coronary artery fistula
B. Aortic valve regurgitation
C. Mitral valve stenosis
D. Patent ductus arteriosus
E. Pulmonary valve regurgitation
38. (D) The continuous murmur is typical of a PDA or systemic arterial to pulmonary artery collateral vessels (common in patients with pulmonary atresia). Patients with PA/VSD frequently have a right-sided aortic arch and the PDA may be best heard over the right back. A right coronary fistula may produce a continuous murmur but is unlikely to be heard best in the back. The other choices do not generate continuous murmurs.
39. A 25 year old presents to clinic with a 3-month history of exercise intolerance. She also recently had palpitations. Holter monitor demonstrated sinus rhythm. She was wearing the Holter monitor when she had three episodes of palpitations. Echocardiogram demonstrated a 20-mm secundum atrial septal defect with adequate anterior/superior and posterior/inferior rims. Echocardiogram also demonstrated RA and RV dilation with preserved function, trivial pulmonary regurgitation, severe tricuspid regurgitation, and RV systolic pressure was 35 mm Hg.
What is the next best step in this patient’s management?
A. Diagnostic cardiac catheterization to determine pulmonary vascular resistance
B. Transcatheter closure of the ASD
C. Annual follow-up
D. Electrophysiology study
E. Surgical repair of ASD with tricuspid valve repair
39. (E) The patient has an ASD that technically would be amenable to device closure. But, other issues need to be addressed such as intervention for the tricuspid valve—dictating that the patient is best served with surgical management. Patients who may need additional cardiac surgery for coronary revascularization, valve repair, or arrhythmia surgery should be treated with surgery rather than sole transcatheter device closure of the ASD.
40. A 20 year old with a history of tricuspid valve atresia, status post a classic Glenn to the right pulmonary artery and subsequent lateral tunnel Fontan to the left pulmonary artery presents with a history of progressive cyanosis and exercise intolerance. He undergoes cardiac catheterization, superior vena cava saturation is 75%, right pulmonary artery 75%, left pulmonary artery 78%, descending aorta 88%. Right upper pulmonary vein 88%, left upper pulmonary vein 98%.
The ratio of pulmonary blood flow (QP) to systemic blood flow (QS) is:
A. 1.3 to 1
B. 1.5 to 1
C. 1.8 to 1
D. 2 to 1
E. Cannot be calculated
40. (E) The patient has two sources of pulmonary blood flow, the SVC exclusively supplies the RPA, the IVC flow via the Fontan conduit supplies the LPA exclusively. In addition, the patient has substrate for right lung fistula due to the classic Glenn procedure. Pulmonary blood flow cannot be accurately quantitated nor can pulmonary vascular resistance be assessed.
41. A 31 year old with a history of tricuspid valve atresia and an atrial-pulmonary Fontan connection performed in 1989 presents to the ACHD Clinic. The patient has progressive dyspnea on exertion. Physical examination is remarkable for oxygen saturation of 94%, elevated jugular veins, single first and second heart sounds, and no murmurs. Liver edge is palpable 8 cm below the costal margin. No ascites, no edema. Liver function including transaminases, total bilirubin, and alkaline phosphatase are all normal. Hepatitis C screening is ordered. Which of the following is a true statement regarding hepatitis C?
A. A positive antibody test indicates active hepatitis C infection
B. 20% of patients who had cardiac surgery prior to 2000 have hepatitis C infection
C. Hepatitis C virus polymerase chain reaction testing confirms presence of infection
D. Hepatitis C cannot be transmitted from an infected mother to her neonate
E. Normal liver function testing makes a diagnosis of hepatitis C unlikely
41. (C) Polymerase chain reaction is needed to confirm presence of active infection. Antibody positivity indicates immunization or prior infection. Prior to 1992, no formal testing was available for what was formerly called “non A-non B hepatitis.” It is estimated that 5% of patients with congenital heart disease who had cardiac surgery prior to 1992 are infected with hepatitis C.
42. BNP levels have been reported to have prognostic value in which subset of patients with congenital heart disease?
A. Eisenmenger syndrome
B. Tetralogy of Fallot
C. Ebstein anomaly
D. Congenitally corrected TGA
E. Shone syndrome
42. (A) Serum BNP levels >140 pg/mL correlated with poor long-term outcome in patients with Eisenmenger syndrome (Reardon LC, et al. Am J Cardiol 2012; 110:1523-6). Elevated BNP correlates with ventricular dilation, dysfunction, and heart failure symptoms but has not been studied specifically in the other lesions listed. Although based on data from just one study, this question has appeared on several board examinations.
43. A 22-year-old female presents for evaluation of a murmur. She has been asymptomatic. An echocardiogram shows a primum ASD. There is moderate right atrial and right ventricular enlargement. Her tricuspid valve is normal with no tricuspid regurgitation. ECG shows right atrial enlargement and left axis deviation. Left ventricular size and function are normal. No shunt is evident at ventricular level.
The next most appropriate step in the care of this patient would be?
A. Referral for surgical ASD closure
B. Referral for ASD device closure in the cardiac cath lab
C. Initiation of ACE inhibition
D. Cardiac cath with coronary angiography
E. Observation with follow-up in 2 years
43. (A) The patient in this scenario has a primum ASD. A primum ASD is located in the most anterior and inferior aspect of the atrial septum at the level of the mitral and tricuspid valves. It is associated with a cleft mitral valve. Any ASD with moderate right ventricular volume overload should be closed. There is decreased mortality after surgical closure (compared to medical treatment), although nonfatal cardiovascular complications are similar. Unlike secundum ASDs, primum ASDs should not be closed using a device in the cath lab. Although there is right atrial enlargement, the patient is not hypertensive and there is no definitive role for ACE inhibition in shunt lesions. Patients with primum ASDs will frequently have left axis deviation on ECG that is related to the lesion rather than any coronary artery disease. There is no indication for a cardiac cath (unless there is concern for pulmonary hypertension).
44. A 26 year old with tetralogy of Fallot had an episode of syncope while playing basketball. He had no pulse and an AED was placed within 2 minutes of the episode of syncope. Tracings from the AED show ventricular tachycardia at a rate of 260 bpm and an AED shock was delivered with conversion to sinus rhythm. An echocardiogram showed free pulmonary regurgitation, moderate right ventricular enlargement, and normal right ventricular systolic function.
Which of the following statements is true about implantable cardioverter-defibrillator placement in this patient?
B. Incidence of ICD-related complications is the same as the adult postmyocardial infarction population
C. Inappropriate ICD shocks occur in <10% of patients with tetralogy of Fallot
D. Amiodarone can be offered as an alternative to ICD placement
E. Transvenous ICD can be placed despite severe pulmonary regurgitation
44. (E) Any patient who survived a cardiac arrest due to nonreversible causes should have an ICD placed. There is no evidence of a reversible cause in this patient. Ablation may be offered as an alternative in a patient with a slow, stable, monomorphic ventricular tachycardia, but not the fast ventricular tachycardia resulting in cardiac arrest seen in this patient. The incidence of ICD complications was reported to be 30% in one study of patients with tetralogy of Fallot, compared to about 10% in the postmyocardial infarction population. The incidence of inappropriate shocks in tetralogy of Fallot is about 25%, which is similar to that seen in other congenital heart lesions. Antiarrhythmic medications are not as effective as an ICD in preventing recurrent arrhythmias. Beta blockers, amiodarone, and sotalol do not decrease the risk of appropriate ICD shocks in patients with tetralogy of Fallot. A transvenous system can be performed in a patient with free pulmonary regurgitation. Patients with residual intracardiac shunts should not have transvenous pacing/ICD leads.
45. You are seeing a 24-year-old female with a history of a dysmorphic right thumb. She was recently diagnosed with a secundum atrial septal defect. Which of the following genetic mutations is most likely in this patient?
C. Trisomy 21
E. NKX 2.5
45. (D) TBX5 mutation is associated with Holt-Oram syndrome. It is inherited in an autosomal dominant fashion. TGFBR 1 & 2 with Loeys-Dietz; FBN1 with Marfan syndrome; Trisomy 21 is Down syndrome; NKX 2.5 with ASD + heart block.
46. A 16 year old is being evaluated for a systolic murmur that was heard during a preparticipation sports examination. She tells you that two of her family members had surgical repair of an ASD. Her ECG demonstrated second-degree Type II AV block. Which gene mutation is most likely in this patient?
A. NKX 2.5
C. GATA IV
D. NOTCH I
47. Which structure is associated with the septum primum?
A. Valve of the fossa ovalis
B. Superior limbus of the atrial septum
C. Inferior limbus of the atrial septum
D. Right atrial appendage
E. Endocardial cushion
47. (A) The embryologic origin of the valve of the fossa ovalis is derived from septum primum. The superior limbus and inferior limbus originate from the septum secundum. Atrial appendage morphology is not related to development of the atrial septum. The endocardial cushions are important in septation of the atrioventricular septum and delamination of the atrioventricular valves.
48. Which of the following patients has the highest risk of cardiac complication during pregnancy?
B. 20-year-old G1P0 with tricuspid atresia status post extracardiac Fontan, no history of arrhythmia or thromboembolic event, NYHA functional class I, systemic ventricular ejection fraction 55%
C. 25-year-old G1P0 with repaired tetralogy of Fallot. One prior episode of atrial fibrillation treated with sotalol, severe pulmonary valve regurgitation with moderate right heart dysfunction on echocardiogram. Peak VO2 58% of predicted
D. 30-year-old G2P1 with bicuspid aortic valve with a mean systolic gradient across the aortic valve of 30 mm Hg. No history of syncope, chest pain, CHF, or arrhythmia. Peak VO2 95% of predicted
48. (C) The cardiac disease in pregnancy (CARPREG) investigators demonstrated in a prospective multicenter study that maternal cardiac risk could be predicted with the use of a risk index. Cardiac events were defined as pulmonary edema, arrhythmia, stroke, or cardiac death. The four predictors of primary cardiac events were (1) prior cardiac event, (2) baseline NYHA class >II or cyanosis, (3) left heart obstruction (mitral valve area <2 cm2, aortic valve area <1.5 cm2, or peak LVOT gradient >30 mm Hg by echocardiography), and (4) reduced systemic ventricular systolic function (EF <40%). The risk of maternal cardiac complication with zero predictors was 5%, with one predictor it was 25%, and with greater than one predictor the risk was 75%. The risk score was further refined by the Boston Adult Congenital Heart Disease Group in a study that demonstrated that including decreased subpulmonary ventricular function and/or severe pulmonary regurgitation as a predictor in the risk index improved the accuracy of the assessment. Of the answers listed, the patient described in (C) has the highest predicted risk with a prior cardiac event (history of atrial fibrillation) and severe pulmonary valve regurgitation. Her poor peak VO2 may be a further indication of poor outcome, even if she has no complaints clinically. The 32-year-old patient has no predictors. The 30-year-old patient has one predictor. The 20-yearold patient could be considered to have one predictor—poor subpulmonary ventricular function.
49. A 22-year-old female with a history of partial AV septal defect and cleft mitral valve presents for evaluation at 6-week gestation. Her partial AV canal defect was repaired at age 2 with no residual defect. She had severe mitral valve regurgitation from her cleft mitral valve repaired 3 years ago. Her left ventricular ejection fraction was reduced to 40% postoperatively, and she has been on a medical regimen of lisinopril, carvedilol, digoxin, and aspirin since surgery. Her ejection fraction was noted to be 60% on her last echocardiogram 9 months ago. Which of the following statements is true regarding her medical therapy?
A. Lisinopril should be continued until 24-week gestation. It should be discontinued then as fetal renal dysfunction can develop in the third trimester
B. Lisinopril should be discontinued and an angiotensin receptor blocker should be initiated
C. Lisinopril should be discontinued now and hydralazine plus a nitrate should be initiated
D. Lisinopril should be continued throughout pregnancy since it has already been used during a period of critical embryogenesis
49. (C) ACE inhibitors can cause fetal renal dysfunction in the third trimester, but have also been demonstrated to be a teratogen. Therefore, ACE inhibitors should be avoided throughout pregnancy. ARBs should be considered to have the same risk profile and should be avoided. Hydralazine and nitrates are safe in pregnancy and together provide similar physiologic response to ACE inhibition.
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