A Case of Hereditable Pulmonary Hypertension / 대한내과학회지

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).