Rippling muscle disease due to a CAV3 mutation with myocarditis-like presentation in an adolescent.

Abstract excerpt

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...

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• Adolescent
• Caveolin 3
• Diagnosis, Differential
• Magnetic Resonance Imaging
• Muscle, Skeletal