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[Restrictive cardiomyopathy due to myofibrillar myopathy]
1Service de cardiologie pédiatrique, hôpital de la Timone-Enfant, 13005 Marseille, France.
Abstract
Unlabelled:
Early and severe cardiomyopathy may be related to myofibrillar myopathy.
Case Report:
We report a one-year-old child with early and severe restrictive cardiomyopathy. The diagnosis of myofibrillar myopathy was obtained on skeletal muscle and endomyocardial biopsies. The patient died despite inotropic support and mechanical ventilation.
Conclusion:
Myofibrillar myopathy must be considered when exploring the etiology of a restrictive cardiomyopathy in children. The diagnosis relies on examination of endomyocardial or skeletal muscle biopsy samples.