AssessmentsApnea, hypoventilation and pulmonary hypertension: Pathology review
USMLE® Step 1 style questions USMLE
A 6-year-old girl is brought to her primary pediatrician for evaluation of dyspnea. The patient feels tired throughout the day, despite sleeping for nine hours every night. She additionally describes intermittent trouble breathing with exertion. The patient’s mother and grandmother have suffered from similar symptoms throughout their lives and have a “problem with the vessels in our lungs.” An echocardiogram is performed, which is within normal limits. Cardiac catheterization is performed, and the patient’s mean pulmonary artery pressure is 32 mmHg (normal <25 mmHg). A mutation in which of the following genes is the most likely etiology of this patient's symptoms?