Sudden cardiac death in myotonic dystrophy type 2.
case_series · Level IV
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Abstract
Medical records and follow-up data were reviewed in 297 genetically proven myotonic dystrophy type 2 (DM2) patients. Patients were selected by the criteria of cardiac sudden death before age 45. Sudden death occurred in four patients, three of whom were cardiological asymptomatic, and one with a history of heart failure. Cardiac histopathology showed dilated cardiomyopathy in all, and conduction system fibrosis in two patients. Pathogenetic CCUG ribonuclear inclusions were demonstrable in cardiomyocytes.
Medical subject headings
- Cardiomyopathy, Dilated
- Chromosomes, Human, Pair 3
- Death, Sudden, Cardiac
- Heart Failure
- Microsatellite Repeats
- Myocardium
- Myotonic Dystrophy
- RNA