Dystrophin-Deficient Cardiomyopathy Due to a Novel Hemizygous DMD Indel Variant - PubMed
7 hours ago
- #genetic testing
- #cardiomyopathy
- #dystrophinopathy
- Dystrophin variants can cause a range of phenotypes, from isolated cardiomyopathy to severe Duchenne muscular dystrophy.
- A 36-year-old man with dystrophin-deficient cardiomyopathy presented in cardiogenic shock, requiring a left ventricular assist device as a bridge to transplant.
- Genetic testing revealed a DMD c.4857_4859del variant of uncertain significance, later confirmed as disease-causing by reduced dystrophin staining in the explanted heart.
- Cascade testing identified multiple affected family members, highlighting the importance of genetic screening.
- The case emphasizes integrating clinical phenotype with functional testing to accurately classify cardiomyopathy gene variants.
- Periodic review of variants of uncertain significance is crucial for early diagnosis, treatment, and family screening.