Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association.
Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association.
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DOI：
10.1161/hcg.0000000000000086
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发表时间：
2021-10
期刊：
影响因子：
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通讯作者：
American Heart Association Council on Genomic and Precision Medicine; Council on Lifelong Congenital Heart Disease and Heart Health in the Young; Council on Arteriosclerosis, Thrombosis and Vascular Biology; and Council on Lifestyle and Cardiometabolic Health
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文献类型：
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作者：
Landstrom AP;Kim JJ;Gelb BD;Helm BM;Kannankeril PJ;Semsarian C;Sturm AC;Tristani-Firouzi M;Ware SM;American Heart Association Council on Genomic and Precision Medicine; Council on Lifelong Congenital Heart Disease and Heart Health in the Young; Council on Arteriosclerosis, Thrombosis and Vascular Biology; and Council on Lifestyle and Cardiometabolic Health
影响心血管系统的遗传性疾病相对常见，包括心脏通道病、心肌病、心脏病、高胆固醇血症以及心脏和大血管的结构性疾病。临床基因检测的迅速扩大利用了数十年来对这些疾病的遗传起源的研究，有助于为诊断，临床管理和预后提供信息。虽然一些指南和声明详细介绍了心血管基因检测的最佳实践，但缺乏以儿科为重点的声明，以解决这一弱势群体在检测方面面临的独特挑战。在这份科学声明中，我们试图整合现有的关于使用基因检测治疗婴儿、儿童和青少年心血管疾病的文献。
Genetic diseases that affect the cardiovascular system are relatively common and include cardiac channelopathies, cardiomyopathies, aortopathies, hypercholesterolemias, and structural diseases of the heart and great vessels. The rapidly expanding availability of clinical genetic testing leverages decades of research into the genetic origins of these diseases, helping inform diagnosis, clinical management, and prognosis. Although a number of guidelines and statements detail best practices for cardiovascular genetic testing, there is a paucity of pediatric-focused statements addressing the unique challenges in testing in this vulnerable population. In this scientific statement, we seek to coalesce the existing literature around the use of genetic testing for cardiovascular disease in infants, children, and adolescents.