Non-BMPR2 mutation heritable pulmonary arterial hypertension in Southeast Asia.

Asian cardiovascular & thoracic annals

PubMedID: 24948783

Pussadhamma B, Kiatchoosakun S, Vannaprasaht S, Barozzi C. Non-BMPR2 mutation heritable pulmonary arterial hypertension in Southeast Asia. Asian Cardiovasc Thorac Ann. 2014;.
A 29-year-old Thai man presented with progressive dyspnea and evidence of pulmonary hypertension. Computed tomography was negative for pulmonary embolism. Cardiac catheterization confirmed the diagnosis of pulmonary arterial hypertension (mean pulmonary artery pressure 54?mm Hg, left ventricular end-diastolic pressure 4?mm Hg, and pulmonary vascular resistance 25 Wood units) without an intracardiac shunt. Two family members had been previously diagnosed with pulmonary hypertension. There was no evidence of left heart disease or respiratory disorders. Based on the definite diagnosis of pulmonary hypertension in 3 family members, heritable pulmonary arterial hypertension was confirmed. Genetic testing indicated no BMPR2 mutation.