Multiple Mutations in Genetic Cardiovascular Disease A Marker of Disease Severity?
Multiple Mutations in Genetic Cardiovascular Disease A Marker of Disease Severity?
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DOI：
10.1161/circgenetics.108.836478
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发表时间：
2009-04-01
影响因子：
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通讯作者：
Semsarian, Christopher
中科院分区：
文献类型：
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作者：
Kelly, Matthew;Semsarian, Christopher
在过去的20年里，我们在识别和理解心血管疾病的遗传基础方面取得了重大进展。目前已经确定有40多种心血管疾病是由单基因缺陷直接引起的。这些疾病涵盖心血管疾病的各个方面，影响心脏结构的各个部分。它们包括遗传性心肌病，如肥厚型心肌病（HCM）、扩张型心肌病和致心律失常性右心室发育不良;原发性致心律失常性疾病，如家族性长QT综合征（LQTS）和Brugada综合征;先天性心脏病，如家族性房间隔缺损;血管疾病，如马凡氏综合征;和代谢紊乱，如家族性高胆固醇血症（FH）。直到最近，这些心脏遗传性疾病一直被认为只涉及单基因缺陷（即，在个体患者中，单个基因中的1个突变导致疾病）。
Over the last 2 decades, major advances have been made in our identification and understanding of the genetic basis of cardiovascular disease. More than 40 cardiovascular disorders have now been identified to be directly caused by single-gene defects. These disorders span all aspects of cardiovascular disease and affect all parts of the heart structure. They include the inherited cardiomyopathies such as hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy, and arrhythmogenic right ventricular dysplasia; primary arrhythmogenic disorders such as familial long-QT syndrome (LQTS) and Brugada syndrome; congenital heart diseases such as familial atrial septal defects; vascular diseases such as Marfan syndrome; and metabolic disorders such as familial hypercholesterolemia (FH). Until recently, these cardiac genetic disorders have been thought to involve only single-gene defects (ie, in an individual patient, 1 mutation in a single gene leads to a disease).