Clinical, Pathological and Genetic Basis of Familial Valvular Heart Disease

二尖瓣脱垂和二尖瓣主动脉瓣是两种常见的瓣膜综合征，其临床特征具有显著的多样性，从无症状到潜在的危及生命的并发症、心力衰竭和猝死。这两种疾病似乎在很大比例的患者中都有家族遗传，因此可能有遗传原因，这一点至今仍不清楚。本项目旨在确定这些常见家族性瓣膜综合征的潜在遗传基础。

Mitral valve prolapse and bicuspid aortic valve are two common valve syndromes that are characterized by remarkable clinical diversity, ranging from no symptoms to potentially life threatening complications, heart failure and sudden death. Both disorders seem to run in families in a significant proportion of patients and thus are likely to have genetic causes, which remains unknown to date. This project aims to identify the underlying genetic basis of these common familial valve syndromes.