Key result
Severe pediatric cardiomyopathy involves pathogenic genetic variants in ~51% of patients alongside frequent myocarditis.
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.
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.
Answers are grounded in this paper and cite their sources.
Should not yet alter practice in pediatric cardiomyopathy; leaves open prospective validation of genetic testing utility.
Aims Severe cardiomyopathies in children may often demand a treatment with inclusion of mechanical circulatory support (MCS) or heart transplantation (HTx). Although these cardiomyopathies are not always hereditary, myocarditis may be regarded as a likely cause, if clinical course is not chronic. The aims of the study were to determine the genetic profile and prevalence of myocarditis in a pediatric population with clinical signs of severe cardiomyopathy. Methods and Results We retrospectively included 106 pediatric and adolescent cardiomyopathy (CMPY) patients requiring HTx, MCS, or any in-hospital treatment. DNA-sequencing was done and sequence variants were classified based on ACMG guidelines. Myocarditis was diagnosed according to the clinical protocol. We overall genotyped 106 index patients; 92 (87%) patients receiving HTx or MCS, 14 (13%) received in hospital treatment. 87 patients (82%) had dilated cardiomyopathy and 54 (51%) carried a (likely) pathogenic (P/LP) variant with TNNI3 as one of the leading affected genes. In 84 genotyped patients (80%) myocarditis was examined. 57 (68%) of the 84 had myocarditis, with chronic lymphocytic myocarditis in 34 (40%) cases. In 28 (49%) of 57 patients with and 14 (52%) of 27 patients without myocarditis P/LP-variants were found. In 41 cases (39%) genotyping of the parents suggests de novo P/LP-variants (34%). Conclusions In severe CMPY, genetic causes and myocarditis because of infection are common. About 50% of childhood cardiomyopathies are linked to pathogenic genetic variants. Myocarditis signatures commonly observed in severe pediatric cardiomyopathies, are not necessarily specific and the only reason for early presentation of heart failure. Genotyping in severe CMPY is essential to identify the causes of myocarditis. Providing genetic counseling may support families facing challenging psychosocial situations.
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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.
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