Comprehensive pathological and genetic investigation of three young adult myotonic dystrophy type 1 patients with sudden unexpected death.

Yukiko HataShojiro IchimataKoji YoshidaYoshiaki YamaguchiKeiichi HironoNaoki Nishida

Published in: Journal of neurology (2023)

The present study showed varied heart morphology in young adults with DM1 and sudden death. Synergistic effects of various genetic factors other than CTG repeats may increase the risk of sudden cardiac death in DM1 patients, even if signs of cardiac and skeletal muscle involvement are mild. Comprehensive genetic investigations, other than CTG repeat assessment, may be useful to estimate the risk of sudden cardiac death in DM1 patients.

Keyphrases

skeletal muscle
newly diagnosed
young adults
prognostic factors
gene expression
metabolic syndrome
copy number
type diabetes
muscular dystrophy