Novel Rod Domain Duplication in Dystrophin Resulting in X-Linked Dilated Cardiomyopathy.

BACKGROUND

X-linked dilated cardiomyopathy is a rare, cardio-specific form of dystrophinopathy allelic to Duchenne and Becker muscular dystrophy that results in heart failure without skeletal muscle weakness.

PATIENT DESCRIPTION: We describe a previously healthy 16-year-old boy who presented with palpitations progressing to heart failure who was ultimately found to have a novel duplication of exons 13-16 in the dystrophin gene resulting in diagnosis of X-linked dilated cardiomyopathy.

RESULTS

The patient was diagnosed with X-linked dilated cardiomyopathy through clinical diagnosis and genetic testing.

CONCLUSION

X-linked dilated cardiomyopathy shares genotypic overlap with Duchenne and Becker muscular dystrophy, with its distinctive feature being a lack of progressive muscular weakness.