Clinical, Pathological and Genetic Basis of Familial Valvular Heart Disease

家族性瓣膜性心脏病的临床、病理和遗传学基础

• 批准号: nhmrc : 1017699
• 负责人: Dr Ratnasari Padang
• 金额: $ 8.89万
• 依托单位: Centenary Institute of Cancer Medicine and Cell Biology
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Postgraduate Scholarships
• 财政年份: 2011
• 资助国家: 澳大利亚
• 起止时间: 2011-01-01 至 2014-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/clinical-pathological-genetic-heart-disease/109894
• 关键词: Clinical; Pathological; Genetic; Basis; Familial

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.

二尖瓣脱垂和二叶式主动脉瓣是两种常见的瓣膜综合征，其特征在于显著的临床多样性，从无症状到潜在危及生命的并发症、心力衰竭和猝死。这两种疾病似乎在很大一部分患者的家族中发生，因此可能有遗传原因，这一点至今仍不清楚。该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。