Importance of Genetic Evaluation and Testing in Pediatric Cardiomyopathy

Overview

Journal World J Cardiol

Publisher Baishideng Publishing Group

Specialty Cardiology & Vascular Diseases

Date 2014 Nov 28

PMID 25429328

Citations 18

Authors

Muhammad Tariq

Stephanie M Ware

Affiliations

Soon will be listed here.

Abstract

Pediatric cardiomyopathies are clinically heterogeneous heart muscle disorders that are responsible for significant morbidity and mortality. Phenotypes include hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, left ventricular noncompaction and arrhythmogenic right ventricular cardiomyopathy. There is substantial evidence for a genetic contribution to pediatric cardiomyopathy. To date, more than 100 genes have been implicated in cardiomyopathy, but comprehensive genetic diagnosis has been problematic because of the large number of genes, the private nature of mutations, and difficulties in interpreting novel rare variants. This review will focus on current knowledge on the genetic etiologies of pediatric cardiomyopathy and their diagnostic relevance in clinical settings. Recent developments in sequencing technologies are greatly impacting the pace of gene discovery and clinical diagnosis. Understanding the genetic basis for pediatric cardiomyopathy and establishing genotype-phenotype correlations may help delineate the molecular and cellular events necessary to identify potential novel therapeutic targets for heart muscle dysfunction in children.

Citing Articles

Underrepresentation of Diverse Ancestries Drives Uncertainty in Genetic Variants Found in Cardiomyopathy-Associated Genes.

Rosamilia M, Markunas A, Kishnani P, Landstrom A JACC Adv. 2024; 3(2).

PMID: 38464909 PMC: 10922016. DOI: 10.1016/j.jacadv.2023.100767.

Compound Heterozygosity for Late-Onset Cardiomyopathy-Causative ALPK3 Coding Variant and Novel Intronic Variant Cause Infantile Hypertrophic Cardiomyopathy.

Poleg T, Eskin-Schwartz M, Proskorovski-Ohayon R, Aminov I, Dolgin V, Agam N J Cardiovasc Transl Res. 2023; 16(6):1325-1331.

PMID: 37973666 DOI: 10.1007/s12265-023-10461-y.

CAMK2D De Novo Missense Variant in Patient with Syndromic Neurodevelopmental Disorder: A Case Report.

Tolmacheva E, Shubina J, Kochetkova T, Ushakova L, Bokerija E, Vasiliev G Genes (Basel). 2023; 14(6).

PMID: 37372357 PMC: 10298453. DOI: 10.3390/genes14061177.

Pathogenic Roles of Cardiac Fibroblasts in Pediatric Dilated Cardiomyopathy.

Tsuru H, Yoshihara C, Suginobe H, Matsumoto M, Ishii Y, Narita J J Am Heart Assoc. 2023; 12(13):e029676.

PMID: 37345811 PMC: 10356057. DOI: 10.1161/JAHA.123.029676.

Advances in symptomatic therapy for left ventricular non-compaction in children.

Li D, Wang C Front Pediatr. 2023; 11:1147362.

PMID: 37215603 PMC: 10192632. DOI: 10.3389/fped.2023.1147362.

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