Why the study?
Severe pediatric cardiomyopathies often require MCS or HTx, and although not always hereditary, myocarditis is regarded as a likely cause in non-chronic cases; this study aimed to determine the genetic profile and prevalence of myocarditis in this population.
Population
106 pediatric and adolescent cardiomyopathy patients requiring HTx, MCS, or in-hospital treatment
Comparison
Patients with vs without myocarditis evaluated for genetic variants
Design
Retrospective study
Key result
Among 106 pediatric patients with severe cardiomyopathy, 51% carried a pathogenic or likely pathogenic genetic variant and 68% of those examined had evidence of myocarditis.
Authors
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Should not yet alter practice in pediatric cardiomyopathy; leaves open prospective validation of genetic testing utility.
Cohort (n=106)
In severe pediatric cardiomyopathy, both genetic causes and myocarditis are common, with pathogenic variants present in about half of cases regardless of myocarditis status, highlighting the importance of routine genetic testing.
Milting et al. (2026) conducted a cohort in Severe cardiomyopathies (n=106). Pathogenic genetic variants and myocarditis was evaluated on Prevalence of pathogenic/likely pathogenic genetic variants and myocarditis. Among 106 pediatric patients with severe cardiomyopathy, 51% carried a pathogenic or likely pathogenic genetic variant and 68% of those examined had evidence of myocarditis.