Myofibrillar myopathies (MFM) are a genetically heterogeneous group of neuromuscular disorders. Mutations in the Z-disk associated protein BAG3 (Bcl2-assocaited athonogene-3) gene result in multisystemic disease, and are mostly associated with dilative cardiomyopathies in adulthood. However a progressive restrictive cardiomyopathy (RCM) at young age has been described in a few patients with one specific mutation (c.626C > T; p.Pro209Leu) in exon 3. We report an 8-year-old boy with nocturnal hypoventilation since age 5 years, who underwent heart transplantation (HTX) due to severe RCM at age 7 years.

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