Association between mutation size and cardiac involvement in myotonic dystrophy type 1: an analysis of the DM1-heart registry


In myotonic dystrophy type 1 (DM1), the association between mutation size (CTG expansion) and the severity of cardiac involvement is controversial. We selected 855 patients with DM1 (women, 51%; median age, 37 years) with genetic testing performed at the moment of their initial cardiac evaluation, out of 1014 patients included in the DM1-Heart Registry between January 2000 and December 2015. We studied the association between CTG expansion size and other baseline characteristics and (i) cardiac involvement at baseline and (ii) the incidence of death, sudden death, and other cardiac adverse events.


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