Key result
In 20 children with idiopathic cardiomyopathy, dilated cardiomyopathy was the most common morphology with a 44.4% mortality rate, and whole-exome sequencing identified pathogenic or likely pathogenic variants in 55% of tested patients.
Why the study?
Data on family screening and genetic testing in pediatric cardiomyopathy from India are limited.
Population
20 children (birth to 18 years of age) with cardiomyopathy at a tertiary care hospital in North India
Comparison
Family screening, multi-panel gene testing, and whole-exome sequencing
Design
Prospective observational study
Follow-up
Median 15 months
Authors
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High mortality in pediatric idiopathic DCM warrants close surveillance; small cohort leaves WES yield open to confirmation.
Observational (n=20)
No
In pediatric idiopathic cardiomyopathy in North India, dilated cardiomyopathy is the most common phenotype with high short-term mortality, and whole-exome sequencing may offer a higher diagnostic yield for genetic causes compared to multi-panel testing.
Bhatt et al. (2023) conducted an observational in Idiopathic pediatric cardiomyopathy (n=20). Genetic testing and family screening was evaluated on Identification of pathogenic or likely pathogenic variants via whole-exome sequencing. In 20 children with idiopathic cardiomyopathy, dilated cardiomyopathy was the most common morphology with a 44.4% mortality rate, and whole-exome sequencing identified pathogenic or likely pathogenic variants in 55% of tested patients.
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