Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
July 5, 2026European Journal of Heart Failure

Severe pediatric cardiomyopathy involves pathogenic genetic variants in ~51% of patients alongside frequent myocarditis.

View Full Paper
Ask AI
Bookmark
Share

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

HMHendrik MiltingAGAnna GärtnerCWC Wiebe

Discussion

Loading...

Member takes

Overview

Should not yet alter practice in pediatric cardiomyopathy; leaves open prospective validation of genetic testing utility.

Key Points

  • To determine the prevalence of myocarditis and identify genetic predispositions in children with severe cardiomyopathy.
  • Retrospective cohort of 106 pediatric patients with severe cardiomyopathy requiring hospitalization, MCS, or HTx.
  • DNA-sequencing performed to identify genetic variants classified by ACMG guidelines.
  • Myocarditis diagnosed based on clinical protocols.
  • Out of 106 patients, 82% had dilated cardiomyopathy; 51% exhibited pathogenic genetic variants.
  • Myocarditis was present in 68% of the examined patients, with chronic lymphocytic myocarditis in 40% of those cases.
  • Genotyping revealed de novo pathogenic variants in 39% of patients.

Study Design

Type

Cohort (n=106)

Structured PICO

P
Population
106 pediatric and adolescent patients with severe cardiomyopathy requiring heart transplantation, mechanical circulatory support, or in-hospital treatment.
O
Outcome
Genetic profile and prevalence of myocarditis

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.

Cite This Study

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.

synapsesocial.com/papers/6a49f68df5d1d45b28800dafhttps://doi.org/10.1093/ejhf/xuag214
View Full Paper
Ask AI
Bookmark
Share