A 29 year old woman has progressive exertional dyspnea, chest discomfort, and near syncope. Examination shows a loud pulmonic component of the second heart sound. Right heart catheterization demonstrates elevated pulmonary arterial pressure with normal pulmonary capillary wedge pressure. Which of the following genetic abnormalities is most strongly associated with her condition?

  1. A)BMPR2 mutationGABARITO
  2. B)FBN1 mutation
  3. C)HFE mutation
  4. D)CFTR mutation
  5. E)PKD1 mutation

Explicação

BMPR2 mutation is correct. Familial pulmonary arterial hypertension is associated with mutations in bone morphogenetic protein receptor type 2, leading to endothelial dysfunction and vascular smooth muscle proliferation. Normal wedge pressure indicates a preca... Ver explicação completa e trilha adaptativa →

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