A 32-year-old woman comes to the physician because of progressive fatigue and shortness of breath on exertion. She has smoked one pack of cigarettes daily for 20 years. The patient's mother died of pulmonary arterial hypertension at age 42. Vital signs are within normal limits. Physical examination shows jugular venous pulsations 9 cm above the sternal angle. The lungs are clear to auscultation. There is a normal S1 and a loud, split S2. An impulse can be felt with the fingers left of the sternum. The abdomen is soft and nontender to palpation. ECG shows right axis deviation. If this patient's condition is inherited, which of the following is the most likely direct cause of her disease?

Question

A 32-year-old woman comes to the physician because of progressive fatigue and shortness of breath on exertion. She has smoked one pack of cigarettes daily for 20 years. The patient's mother died of pulmonary arterial hypertension at age 42. Vital signs are within normal limits. Physical examination shows jugular venous pulsations 9 cm above the sternal angle. The lungs are clear to auscultation. There is a normal S1 and a loud, split S2. An impulse can be felt with the fingers left of the sternum. The abdomen is soft and nontender to palpation. ECG shows right axis deviation.  If this patient's condition is inherited, which of the following is the most likely direct cause of her disease?

Quizplus · Accepted Answer

Eductional Objective: Hereditary pulmonary arterial hypertension develops in 2 steps.  An abnormal BMPR2 gene predisposes affected individuals to excessive endothelial and smooth muscle cell proliferation.  An insult (eg, infection, drugs) is thought to then activate the disease process, resulting in vascular remodeling, increased pulmonary vascular resistance, and progressive pulmonary hypertension.

A 32-Year-Old Woman Comes to the Physician Because of Progressive