An unusual case of early cardiac involvement of multi-factorial origin in DMD

Israeli clinicians report a highly original observation of a child diagnosed with Duchenne muscular dystrophy (DMD) at the age of 18 months, but whose cardiological evaluation at that time revealed a hypertrophic cardiomyopathy.

• The very early onset of the cardiomyopathy and its hypertrophic character are unusual.
• The genetic study of the DMD gene revealed a deletion of exons 51 to 54.
• A whole exome study revealed variants in two genes (MAP2K5 and ACTN2) known to give or potentially giving rise to hypertrophic cardiomyopathies.

However, the imputability of these variants remains subject to discussion because it is based on a purely bioinformatics analysis.

 

Duchenne Muscular Dystrophy and Early Onset Hypertrophic Cardiomyopathy associated with Mutations in Dystrophin and Hypertrophic Cardiomyopathy-Associated Genes. Aspit L, Arwas N, Krymko H et al. J Pediatr Genet. 2020 Nov 19;11(4):304-308.