title: Non-BMPR2 mutation heritable pulmonary arterial hypertension in Southeast Asia.
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.
authors.affiliation: 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.
authors.forename: Burabha
authors.initials: B
authors.lastname: Pussadhamma
authors.affiliation: Division of Cardiology, Queen Sirikit Heart Center of the Northeast, Department of Medicine, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand.
authors.forename: Songsak
authors.initials: S
authors.lastname: Kiatchoosakun
authors.affiliation: Department of Pharmacology, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand.
authors.forename: Suda
authors.initials: S
authors.lastname: Vannaprasaht
authors.affiliation: Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Barozzi
mesh_terms: D000328:Adult; D001210:Asia, Southeastern; D052006:Bone Morphogenetic Protein Receptors, Type II / Q000235:genetics*; D006328:Cardiac Catheterization / Q000379:methods; D004417:Dyspnea / Q000209:etiology*; D065627:Familial Primary Pulmonary Hypertension / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000503:physiopathology; D005190:Family; D006801:Humans; D008297:Male; D009154:Mutation; D011859:Radiography; D015898:Tomography Scanners, X-Ray Computed
chemical_list: C498218:BMPR2 protein, human; D052006:Bone Morphogenetic Protein Receptors, Type II
keywords: Asia; genetic predisposition to disease; hypertension; pulmonary; southeastern