Rippling muscle disease due to a CAV3 mutation with myocarditis-like presentation in an adolescent
Turkish Journal of Pediatrics, cilt.68, sa.3, ss.495-500, 2026 (SCI-Expanded, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 68 Sayı: 3
- Basım Tarihi: 2026
- Doi Numarası: 10.24953/turkjpediatr.2026.7755
- Dergi Adı: Turkish Journal of Pediatrics
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, Directory of Open Access Journals, TR DİZİN (ULAKBİM), Biomedical Reference Collection: Corporate Edition (EBSCO), Health Research Premium Collection (ProQuest)
- Sayfa Sayıları: ss.495-500
- Anahtar Kelimeler: Rippling muscle disease, pediatric cardiomyopathy, caveolin-3 (CAV3) mutation, non-ischemic myocardial fibrosis
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.