MKSAP Quiz: Managing a congenital heart defect in an adult
A 24-year-old woman diagnosed with a ventricular septal defect at age 7 months undergoes routine examination. The S1 and S2 are masked by a loud holosystolic murmur noted at the left lower sternal border. A transthoracic echocardiogram demonstrates a membranous ventricular septal defect with a small left-to-right shunt. After review of additional results from cardiac testing, what is the appropriate management?
A 24-year-old woman undergoes routine evaluation. She has not seen a physician recently but reports no symptoms. She was diagnosed with a ventricular septal defect at age 7 months. Regular evaluation was performed during childhood. Medical history is otherwise noncontributory, and she takes no medications.
On physical examination, vital signs are normal. The jugular venous pressure and apical impulse are normal. No parasternal impulse is noted. The S1 and S2 are masked by a loud holosystolic murmur noted at the left lower sternal border. The remainder of the examination is unremarkable.
An electrocardiogram and chest radiograph are normal. A transthoracic echocardiogram demonstrates a membranous ventricular septal defect with a small left-to-right shunt. The left ventricular size and function are normal, with an ejection fraction of 60%. The right heart chambers and valve function are normal. The estimated pulmonary artery pressure is normal.
Which of the following is the most appropriate management?
A. Cardiac catheterization
B. Cardiac magnetic resonance imaging
C. Endocarditis prophylaxis
D. Follow-up in 3 to 5 years
MKSAP Answer and Critique
The correct answer is D. Follow-up in 3 to 5 years. This content is available to MKSAP 18 subscribers as Question 67 in the Cardiovascular Medicine section. More information about MKSAP is available online.
The most appropriate management for this patient with a small uncomplicated ventricular septal defect (VSD) is follow-up in 3 to 5 years. VSDs are defined by their location on the ventricular septum. The most common type of VSD is perimembranous, making up 80% of cases; these are usually isolated abnormalities. She has no associated symptoms, volume overload of the left heart, pulmonary hypertension, or valve regurgitation; therefore, periodic clinical evaluation and imaging are recommended. If pulmonary vascular disease is present (pulmonary artery systolic pressure >50 mm Hg), patients should be advised against isometric or competitive exercise. In the absence of pulmonary hypertension, pregnancy in women with VSDs is generally well tolerated. It is unnecessary to suggest activity restriction in this patient with a small VSD and normal pulmonary artery pressure, and pregnancy should not be complicated by the VSD.
Cardiac catheterization is not indicated for this patient because her clinical presentation and echocardiogram do not demonstrate features of left heart enlargement or pulmonary hypertension. Cardiac catheterization is primarily performed to delineate the shunt ratio and to determine pulmonary pressures if clinical uncertainty exists regarding the degree or impact of a shunt, or if the VSD is incompletely assessed by echocardiographic measures.
Cardiac magnetic resonance imaging will usually demonstrate a membranous VSD and can quantitate the impact of the shunt on the left heart; however, it is not indicated in this patient because the clinical and echocardiographic assessment are sufficient to suggest that observation is appropriate.
Endocarditis prophylaxis is recommended for patients with unrepaired cyanotic congenital heart disease, including palliative shunts and conduits; a congenital heart defect that has been completely repaired with prosthetic material or device during the first 6 months after the procedure; and repaired congenital heart disease with residual defects. Patients with uncomplicated VSDs without a history of endocarditis do not require endocarditis prophylaxis.
Key Point
- Periodic follow-up with clinical evaluation and imaging are appropriate in patients with a small uncomplicated ventricular septal defect.