Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association
Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association
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DOI：
10.1161/hcg.0000000000000067
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发表时间：
2020-08-01
影响因子：
7.4
通讯作者：
Sturm, Amy C.
中科院分区：
文献类型：
--
作者：
Musunuru, Kiran;Hershberger, Ray E.;Sturm, Amy C.
人类遗传学的进步提高了人们对各种遗传性心血管疾病的理解，包括心肌病、心律失常、血管疾病和脂类疾病，如家族性高胆固醇血症。然而，并不是所有的心血管从业者都充分意识到将基因检测结果纳入患者及其家人护理的效用和潜在陷阱。本声明总结了目前在基因检测方面的最佳做法及其对遗传性心血管疾病管理的影响。
Advances in human genetics are improving the understanding of a variety of inherited cardiovascular diseases, including cardiomyopathies, arrhythmic disorders, vascular disorders, and lipid disorders such as familial hypercholesterolemia. However, not all cardiovascular practitioners are fully aware of the utility and potential pitfalls of incorporating genetic test results into the care of patients and their families. This statement summarizes current best practices with respect to genetic testing and its implications for the management of inherited cardiovascular diseases.