Answer
D: Ventricular septal defect
Educational Objective
Diagnose ventricular septal defect.
Critique
The most likely diagnosis in this patient is a small (restrictive) ventricular septal defect (VSD) (Option D). The presentation of an isolated VSD depends on the VSD size and pulmonary vascular resistance. Small VSDs are usually asymptomatic. A palpable systolic murmur (thrill) is often noted at the left sternal border, accompanied by a loud holosystolic murmur that obliterates the S2, as observed in this patient. Small VSDs do not cause left heart enlargement or pulmonary hypertension, and the ECG and chest radiograph reveal normal findings. VSD closure is not indicated for patients with a small left-to-right shunt and no chamber enlargement or valve disease, but periodic clinical evaluation and imaging are recommended. Patients with small VSDs do not require activity restrictions.
An adult with an atrial septal defect (ASD) (Option A) most often presents with dyspnea, atrial arrhythmias, or right heart enlargement. Physical examination findings include elevation in venous pressure, a right ventricular lift, fixed splitting of the S2, a pulmonary midsystolic flow murmur, and, when there is a large shunt, a tricuspid diastolic flow rumble. The ECG demonstrates right axis deviation and incomplete right bundle branch block, and the chest radiograph generally demonstrates features of right heart enlargement and enlarged pulmonary arteries with increased pulmonary blood flow.
Typical physical examination findings in aortic coarctation (Option B) include upper extremity hypertension, radial artery–to–femoral artery pulse and blood pressure differentials, and a systolic murmur over the left chest related to obstruction from the coarctation. In addition, findings of bicuspid aortic valve, including ejection click and systolic ejection murmur, are commonly present, as more than 50% of patients with coarctation also have a bicuspid aortic valve. The ECG demonstrates left ventricular hypertrophy, and a typical chest radiograph shows abnormal aortic contour and rib notching.
A small patent ductus arteriosus (PDA) (Option C) generally causes no cardiovascular symptoms. A continuous murmur heard beneath the left clavicle that envelops the S2 is typical. Occasionally, no murmur is heard, and the diagnosis is made by echocardiography. The ECG and chest radiograph are normal in a patient with a small PDA.
Key Points
A small ventricular septal defect presents with a loud (often palpable) holosystolic murmur located at the left sternal border that obliterates the S2.
Ventricular septal defect closure is not indicated for patients with a small left-to-right shunt and no chamber enlargement or valve disease, but periodic clinical evaluation and imaging are recommended.
Bibliography
Stout KK, Daniels CJ, Aboulhosn JA, et al. 2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. J Am Coll Cardiol. 2019;73:e81-e192. [PMID: 30121239] doi:10.1016/j.jacc.2018.08.1029
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