Contiguous Xp21 deletion involving Duchenne muscular dystrophy and McLeod neuroacanthocytosis syndrome results in rapidly progressive and fatal cardiomyopathy.
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Case Report
Dilated cardiomyopathy is an expected manifestation and common cause of death in patients with Duchenne muscular dystrophy. We present an unusually rapid progression of cardiomyopathy in a boy with Duchenne muscular dystrophy. Expanded genetic testing revealed a contiguous Xp21 deletion involving dystrophin and XK genes, responsible for Duchenne muscular dystrophy and McLeod neuroacanthocytosis syndrome, respectively, resulting in a more severe cardiac phenotype.
