Non-BMPR2 mutation heritable pulmonary arterial hypertension in Southeast Asia

Asian Cardiovasc Thorac Ann. 2015 May;23(4):481-3. doi: 10.1177/0218492314541133. Epub 2014 Jun 19.

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.

Keywords: Asia; genetic predisposition to disease; hypertension; pulmonary; southeastern.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Asia, Southeastern
  • Bone Morphogenetic Protein Receptors, Type II / genetics*
  • Cardiac Catheterization / methods
  • Dyspnea / etiology*
  • Familial Primary Pulmonary Hypertension / diagnostic imaging*
  • Familial Primary Pulmonary Hypertension / genetics*
  • Familial Primary Pulmonary Hypertension / physiopathology
  • Family*
  • Humans
  • Male
  • Mutation
  • Radiography
  • Tomography Scanners, X-Ray Computed

Substances

  • BMPR2 protein, human
  • Bone Morphogenetic Protein Receptors, Type II