Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association

被引：46

作者：

Landstrom, Andrew P. ^{[1
]}

Kim, Jeffrey J. ^{[2
]}

Gelb, Bruce D. ^{[3
]}

Helm, Benjamin M. ^{[4
]}

Kannankeril, Prince J. ^{[5
]}

Semsarian, Christopher ^{[6
]}

Sturm, Amy C. ^{[7
]}

Tristani-Firouzi, Martin ^{[8
]}

Ware, Stephanie M. ^{[4
]}

机构：

[1] Duke Univ, Sch Med, Med Ctr, Durham, NC 27706 USA

[2] Texas Childrens Hosp, Baylor Coll Med, Houston, TX 77030 USA

[3] Icahn Sch Med Mt Sinai, New York, NY 10029 USA

[4] Indiana Univ Sch Med, Indianapolis, IN 46202 USA

[5] Vanderbilt Univ, Sch Med, Nashville, TN 37212 USA

[6] Univ Sydney, Sydney, NSW, Australia

[7] Geisinger Genom Med Inst, Danville, PA USA

[8] Univ Utah, Salt Lake City, UT 84112 USA

来源：

CIRCULATION-GENOMIC AND PRECISION MEDICINE | 2021年 / 14卷 / 05期

关键词：

AHA Scientific Statements; cardiomyopathies; channelopathies; connective tissue diseases; counseling; genetic; predictive genetic testing; THORACIC AORTIC DISEASE; LONG-QT SYNDROME; MEDICAL GENETICS; FAMILIAL HYPERCHOLESTEROLEMIA; HYPERTROPHIC CARDIOMYOPATHY; CONSENSUS STATEMENT; BRUGADA SYNDROME; CLINICAL EXOME; 2016; UPDATE; DIAGNOSIS;

D O I：

10.1161/HCG.0000000000000086

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页数：14

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