A Case of Hereditable Pulmonary Hypertension.
- Author:
Jin Ho KIM
1
;
Seung Jun LEE
;
Han Cheol LEE
;
Jin Young LEE
;
Young Jae LEE
;
Wook Jin CHUNG
;
Hyuk Jae CHANG
Author Information
1. Cardiology Division, Yonsei Cardiovascular Center and Cardiovascular Research Institute, Yonsei University College of Medicine, Seoul, Korea. hjchang@yuhs.ac
- Publication Type:Case Report
- Keywords:
Pulmonary arterial hypertension;
Bone morphogenetic protein receptor;
Type II
- MeSH:
Bone Morphogenetic Proteins;
Germ-Line Mutation;
Humans;
Hypertension;
Hypertension, Pulmonary;
Korea;
Transforming Growth Factor beta
- From:Korean Journal of Medicine
2012;83(4):494-497
- CountryRepublic of Korea
- Language:Korean
-
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).
