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Many Children with Variations Leading to Cardiomyopathy Not Being Screened

By Malorye Branca on May, 5 2021

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Primary Reference: Ware, S. M. et al. JAHA, April 2021.

Genes:  This study examined 37 genes from clinical cardiomyopathy genetic testing panels.

 A University at Buffalo (UB)-led study on genes associated with pediatric cardiomyopathy strongly supports routine genetic screening in children with the disease. The study, published April 28 in the Journal of the American Heart Association, revealed wide variation in screening, with some centers conducting routine genetic testing and others conducting none. 

Involving 14 centers, the National Institutes of Health (NIH)-funded study of 152 children with cardiomyopathy found that only half had undergone genetic screening, but 21% of those who did not undergo screening were found to have a genetic cause for the disease when they participated in the research study, which involved whole exome sequencing on children with cardimyopathies. 

"Even in families without a family history of cardiomyopathy, we found that many children with cardiomyopathy have a genetic cause that we can establish," said Steven E. Lipshultz, MD, the study's senior author and principal investigator and A. Conger Goodyear Professor and Chair of the Department of Pediatrics in the Jacobs School of Medicine and Biomedical Sciences at UB.

Children were eligible if they had a diagnosis of idiopathic or primary cardiomyopathy of several types, including dilated, hypertrophic, restrictive, or left ventricular cardiomyopathy or presumed myocarditis before 18 years of age. 

UB is one of only 40 cardiomyopathy centers in the world that have been certified as a recognized Cardiomyopathy Center of Care by the Children’s Cardiomyopathy Foundation for providing care and specialized disease management to children with cardiomyopathy. 

 

Additional resource:

The Cardiac Genome Clinic: Implementing genome sequencing in pediatric heart disease. Reuter, M. S., et al,Genet Med, June 2020

This group analyzed genome sequencing data of 111 families with cardiac lesions for rare, disease-associated variations. They found causative variants in 14 families (12.6%): seven were de novo (ANKRD11, KMT2D, NR2F2, POGZ, PTPN11, PURA, SALL1) and six were inherited from parents with no or subclinical heart phenotypes (FLT4, DNAH9, MYH11, NEXMIF, NIPBL, PTPN11). The researchers report that: “This data set demonstrates the diagnostic and scientific value of genome sequencing in pediatric heart disease, anticipating its role as a first-tier diagnostic test. The genetic heterogeneity will necessitate large-scale genomic initiatives for delineating novel gene-disease associations.”

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