• Asian Cardiovasc Thorac Ann · May 2015

    Case Reports

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

    • Burabha Pussadhamma, Songsak Kiatchoosakun, Suda Vannaprasaht, and Chiara Barozzi.
    • Division of Cardiology, Queen Sirikit Heart Center of the Northeast, Department of Medicine, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand pussadhamma@gmail.com.
    • Asian Cardiovasc Thorac Ann. 2015 May 1; 23 (4): 481-3.

    AbstractA 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.© The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

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