Genes and pulmonary arterial hypertension.

摘要: Familial pulmonary arterial hypertension (FPAH) was first described more than 50 years ago. Before the availability of modern genetic tools, studies genealogies demonstrated that these cases segregated as an autosomic dominant trait, with incomplete penetrance and a anticipation phenomenon by which age at onset disease is decreasing in subsequent generations. Germline mutations gene coding for bone morphogenetic protein receptor II (BMPR2) are present 70% FPAH up to 26% idiopathic, apparently sporadic (IPAH). Incomplete (around 20%) major pitfall because becomes ignored when skips one or several Genetic counseling complex, significant number BMPR2 mutation healthy carriers screened some families. puts them anxious situation being potentially affected future this devastating condition transmit risk their offspring. Nevertheless, testing about become standard management PAH. Recent international guidelines on PAH state recommended IPAH patients have be informed such testing.