A 25-year-old woman has had progressive dyspnea and fatigue for the past 2 years. On physical examination, she has pedal edema, jugular venous distention, and hepatomegaly. Lung fields are clear on auscultation. Chest CT scan shows right heart enlargement. Cardiac catheterization is performed, and the pulmonary arterial pressure is increased, without gradients across the pulmonic valve, and no shunts are noted. A transbronchial biopsy is performed, and microscopic examination shows plexiform lesions. A mutation in a gene encoding for which of the following is most likely to cause her pulmonary disease?
A 25-year-old woman has had progressive dyspnea and fatigue for the past 2 years. On physical examination, she has pedal edema, jugular venous distention, and hepatomegaly. Lung fields are clear on auscultation. Chest CT scan shows right heart enlargement. Cardiac catheterization is performed, and the pulmonary arterial pressure is increased, without gradients across the pulmonic valve, and no shunts are noted. A transbronchial biopsy is performed, and microscopic examination shows plexiform lesions. A mutation in a gene encoding for which of the following is most likely to cause her pulmonary disease?
💡 Explanation
A 25-year-old woman has had progressive dyspnea and fatigue for the past 2 years. On physical examination, she has pedal edema, jugular venous distention, and hepatomegaly. Lung fields are clear on auscultation. Chest CT scan shows right heart enlargement. Cardiac catheterization is performed, and the pulmonary arterial pressure is increased, without gradients across the pulmonic valve, and no shunts are noted. A transbronchial biopsy is performed, and microscopic examination shows plexiform lesions. A mutation in a gene encoding for which of the following is most likely to cause her pulmonary disease?
✓ Correct Answer: B. Bone morphogenetic receptor 2 (BMPR2)
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