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Updated: Apr 27, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Non-BMPR2 mutation heritable pulmonary arterial hypertension in Southeast Asia
Burabha Pussadhamma1, Songsak Kiatchoosakun2, Suda Vannaprasaht3
1Division of Cardiology, Queen Sirikit Heart Center of the Northeast, Department of Medicine, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand pussadhamma@gmail.com.
Abstract:
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.
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