Congenital Heart Disease USMLE Step 1 Practice Question
A 6-year-old boy presents with short stature, hypertelorism, and webbed neck. Vital signs show BP 118/76 mmHg, HR 92 bpm, RR 20/min, temperature 37°C, and SpO2 98% on room air. Cardiac examination reveals a systolic ejection murmur best heard at the left upper sternal border. Echocardiography confirms valvular pulmonary stenosis with normal left ventricular function. He denies cyanosis or syncope. He takes no cardiac medications currently. Which genetic syndrome is most strongly associated with this constellation of findings?
Answer choices
- AMarfan syndrome
- BDiGeorge syndrome
- CTurner syndrome
- DNoonan syndromeCorrect answer
- EWilliams syndrome
- FEhlers-Danlos syndrome
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