Heart failure & cardiomyopathies
Genotype, Phenotypic Severity, and Survival in Pediatric Dilated Cardiomyopathy: A Report From the Pediatric Cardiomyopathy Registry
Authors' conclusion
A genetic cause was detected in a minority of children and was not associated with the phenotypic severity of DCM at diagnosis. Echocardiographic normalization of left ventricular function over time was noted more frequently in patients who did not have an identified pathogenic/LP variant.
Study context
- Population
- Children (0–18 years) with nonsyndromic dilated cardiomyopathy (DCM), 2013 to 2016DCM probands (47% male), median age at diagnosis 1.6 (0.4–10.4) years, median follow-up 1.1 (0.2–4.0) years
- Participants
- 279 children
- Exposure
- Presence versus absence of a pathogenic/likely pathogenic (LP) variant
- Outcome
- Genetic yield
Methodological detailsexome sequencing of a panel of 37 cardiomyopathy-associated genes
- Exome sequencing of a panel of 37 cardiomyopathy-associated genes
Main finding
As reported in the abstract
- Genes with pathogenic/LP variants
- 18 of the 37 genes evaluated
- TTN, of all positive variants
- 17%
- TNNT2, of all positive variants
- 15%
- MYH7, of all positive variants
- 15%
- RBM20, of all positive variants
- 9%
- LMNA, of all positive variants
- 8%
- Overall cohort with identifiable genetic cause
- 19%
- Children >12 years old, genetic yield (highest)
- 34% (P <0.05)
Observational data: associations, not effects.
Further findings
- Heart failure symptoms at or within 12 months of presentation — pathogenic/LP variant
- 62%
Heart failure symptoms at or within 12 months of presentation
- Neither heart failure symptoms nor echocardiographic severity associated with having a pathogenic/LP variant
Death or cardiac transplant · 10 years after diagnosis
- Rate of death or cardiac transplant by 10 years
- exceeded 60%
- Did not differ with presence or absence of a pathogenic/LP variant
Echocardiographic normalization (competing risks analysis) · 10 years after diagnosis
- Trend toward greater echo normalization in those without a pathogenic/LP variant
- P = 0.09
- Competing risks analysis
Original publication
Genotype, Phenotypic Severity, and Survival in Pediatric Dilated Cardiomyopathy: A Report From the Pediatric Cardiomyopathy Registry. Circ Heart Fail. Published 27 October 2026. doi:10.
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