How to cite this article: Rigelsky CM, Jennings C, Lehtonen R, Minai OA, Eng C, Aldred MA. 2008. BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia. Am J Med Genet Part A 146A:2551–2556.
BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia†
Article first published online: 15 SEP 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 19, pages 2551–2556, 1 October 2008
How to Cite
Rigelsky, C. M., Jennings, C., Lehtonen, R., Minai, O. A., Eng, C. and Aldred, M. A. (2008), BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia. Am. J. Med. Genet., 146A: 2551–2556. doi: 10.1002/ajmg.a.32468
- Issue published online: 22 SEP 2008
- Article first published online: 15 SEP 2008
- Manuscript Accepted: 6 JUN 2008
- Manuscript Received: 24 JAN 2008
- pulmonary hypertension;
- hereditary hemorrhagic telangiectasia;
- BMPR2 mutation
Pulmonary arterial hypertension (PAH) and hereditary hemorrhagic telangiectasia (HHT) are distinct clinical entities caused by germline mutations in genes encoding members of the TGFβ/BMP superfamily: BMPR2 in PAH and ACVRL1, ENG, or SMAD4 in HHT. When PAH and HHT occasionally co-exist within the same family, ACVRL1 mutations predominate. We report a 36-year-old woman initially diagnosed with PAH at age 24. At 35, following massive hemoptysis, multiple pulmonary arteriovenous malformations were discovered, prompting evaluation for HHT. She met the Curaçao diagnostic criteria for suspected HHT based on additional findings of nasal telangiectases and epistaxis. Mutation analysis of ACVRL1, ENG, and SMAD4 was normal, but a germline nonsense mutation in BMPR2 was identified. This is the first known report of HHT features, particularly pulmonary AVMs, associated with a BMPR2 mutation. It adds further weight to a common molecular pathogenesis in PAH and HHT, and highlights that BMPR2 gene analysis is indicated in patients affected with both HHT and PAH. © 2008 Wiley-Liss, Inc.