Rippling muscle disease due to a CAV3 mutation with myocarditis-like presentation in an adolescent.
DG, A., H, B., H, D., GE, G., S, A., & M, D. (2026). Rippling muscle disease due to a CAV3 mutation with myocarditis-like presentation in an adolescent.. The Turkish journal of pediatrics. https://doi.org/10.24953/turkjpediatr.2026.7755
DG A, H B, H D, GE G, S A, M D. Rippling muscle disease due to a CAV3 mutation with myocarditis-like presentation in an adolescent.. The Turkish journal of pediatrics. 2026; doi: 10.24953/turkjpediatr.2026.7755
DG A, H B, H D, et al. Rippling muscle disease due to a CAV3 mutation with myocarditis-like presentation in an adolescent.[J]. The Turkish journal of pediatrics. 2026. DOI: 10.24953/turkjpediatr.2026.7755.
@article{dg2026,
author = {Akbulut DG and Bornaun H and Dörtler H and Göktolga GE and Akbaş S and Doğan M},
title = {Rippling muscle disease due to a CAV3 mutation with myocarditis-like presentation in an adolescent.},
journal = {The Turkish journal of pediatrics},
year = {2026},
doi = {10.24953/turkjpediatr.2026.7755},
note = {PMID: 42497437},
}
TY - JOUR AU - Akbulut DG AU - Bornaun H AU - Dörtler H AU - Göktolga GE AU - Akbaş S AU - Doğan M TI - Rippling muscle disease due to a CAV3 mutation with myocarditis-like presentation in an adolescent. T2 - The Turkish journal of pediatrics PY - 2026 DO - 10.24953/turkjpediatr.2026.7755 AN - PMID:42497437 ER -
BACKGROUND: This case report describes a rare presentation of rippling muscle disease (RMD) due to a pathogenic CAV3 variant, manifesting with myocarditis-like cardiac involvement in an adolescent patient. To the best of our knowledge, this represents an exceedingly rare pediatric case of RMD associated with clinically significant cardiac findings. CASE PRESENTATION: A previously healthy 15-year-old male adolescent presented with vomiting and markedly elevated creatine kinase and troponin levels, raising suspicion of acute myocarditis. Cardiac magnetic resonance imaging (MRI) demonstrated non-ischemic myocardial fibrosis, and genetic testing identified a pathogenic de novo variant in the CAV3 gene consistent with rippling muscle disease. CONCLUSIONS: This case highlights the potential for myocarditis-like cardiac involvement in caveolin-3-related rippling muscle disease and underscores the importance of considering underlying genetic myopathies in adolescents presenting with unexplained elevations of serum creatine kinase (hyperCKemia) and cardiac biomarkers.