Korean J Med.
2012 Oct;83(4):494-497.
A Case of Hereditable Pulmonary Hypertension
- Affiliations
-
- 1Cardiology Division, Yonsei Cardiovascular Center and Cardiovascular Research Institute, Yonsei University College of Medicine, Seoul, Korea. hjchang@yuhs.ac
- 2Lee Gil Ya Cancer and Diabetes Institute, Gachon University, Incheon, Korea.
- 3Gachon University Gil Hospital, Gachon Cardiovascular Research Institue, Incheon, Korea.
Abstract
- Pulmonary arterial hypertension is a rare life-threatening disorder. Inherited cases of this disorder are known as heritable pulmonary arterial hypertension. Familial cases of heritable pulmonary arterial hypertension are caused by germline mutations of the bone morphogenetic protein receptor type 2 gene (BMPR), a type II receptor of the TGF-beta superfamily. This has not been reported in Korea. We report the first case of familial hereditable pulmonary arterial hypertension in Korea. The family has a mutation in exon12 of the BMPR2 gene (c.2695C > T, p.R899X).
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Updated clinical classification of pulmonary hypertension
- Clinical Year in Review of Pulmonary Vascular Disease
- A Case of Pulmonary Hypertension Recurred by Graves' Disease
- Pulmonary Arterial Hypertension
- A Case of Ascites and Extensive Abdominal Distension Caused by Reversible Pulmonary Arterial Hypertension Associated with Graves' Disease
