Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.

doi:10.1161/JAHA.120.017731

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Article

Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.

Journal of the American Heart Association - 4 May 2021

Ware Stephanie M, Wilkinson James D, Tariq Muhammad, Schubert Jeffrey A, Sridhar Arthi, Colan Steven D, Shi Ling, Canter Charles E, Hsu Daphne T, Webber Steven A, Dodd Debra A, Everitt Melanie D, Kantor Paul F, Addonizio Linda J, Jefferies John L, Rossano Joseph W, Pahl Elfriede, Rusconi Paolo, Chung Wendy K, Lee Teresa, Towbin Jeffrey A, Lal Ashwin K, Bhatnagar Surbhi, Aronow Bruce, Dexheimer Phillip J, Martin Lisa J, Miller Erin M, Sleeper Lynn A, Razoky Hiedy, Czachor Jason, Lipshultz Steven E

Abstract excerpt

Background Pediatric cardiomyopathy is a genetically heterogeneous disease with substantial morbidity and mortality. Current guidelines recommend genetic testing in children with hypertrophic, dilated, or restrictive cardiomyopathy, but practice variations exist. Robust data on clinical testing practices and diagnostic yield in children are lacking. This study aimed to identify the genetic causes of...

Topics

Adolescent
Cardiomyopathies
Child
Child, Preschool
Female
Genetic Predisposition to Disease
Genetic Testing
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant

Male

Morbidity

Registries

Retrospective Studies

Survival Rate

United States

Exome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 33906374
DOI: 10.1161/JAHA.120.017731
PMCID: PMC8200745

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