The genetic architecture of pediatric cardiomyopathy.

doi:10.1016/j.ajhg.2021.12.006

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Article

The genetic architecture of pediatric cardiomyopathy.

American journal of human genetics - 3 Feb 2022

Ware Stephanie M, Bhatnagar Surbhi, Dexheimer Phillip J, Wilkinson James D, Sridhar Arthi, Fan Xiao, Shen Yufeng, Tariq Muhammad, Schubert Jeffrey A, Colan Steven D, Shi Ling, Canter Charles E, Hsu Daphne T, Bansal Neha, Webber Steven A, Everitt Melanie D, Kantor Paul F, Rossano Joseph W, Pahl Elfriede, Rusconi Paolo, Lee Teresa M, Towbin Jeffrey A, Lal Ashwin K, Chung Wendy K, Miller Erin M, Aronow Bruce, Martin Lisa J, Lipshultz Steven E

Abstract excerpt

To understand the genetic contribution to primary pediatric cardiomyopathy, we performed exome sequencing in a large cohort of 528 children with cardiomyopathy. Using clinical interpretation guidelines and targeting genes implicated in cardiomyopathy, we identified a genetic cause in 32% of affected individuals. Cardiomyopathy sub-phenotypes differed by ancestry, age at diagnosis, and family history. Infants < 1...

Topics

Age of Onset
Cardiomyopathy, Dilated
Case-Control Studies
Child
Cohort Studies
Exome
Female
Gene Expression Profiling

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Gene Expression Regulation

Genetic Predisposition to Disease

Genetic Testing

Genetic Variation

Genotype

Humans

Inheritance Patterns

Male

Phenotype

Practice Guidelines as Topic

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Identifiers

PMID: 35026164
DOI: 10.1016/j.ajhg.2021.12.006
PMCID: PMC8874151

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