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Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
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Risk of Cardiac Disease in a Population-Based Cohort of Myotonic Dystrophy Type 1 and Type 2 in the United States

Nicholas E Johnson1, Vinay Bhandaru2, Jennifer G Andrews3

  • 1Center for Inherited Myology Research, Virginia Commonwealth University, Richmond.

Neurology. Genetics
|October 31, 2025
PubMed

Insights

Individuals with myotonic dystrophy type 1 (DM1) and type 2 (DM2) have a high risk of cardiac arrhythmias, especially those with DM1. Cardiomyopathy is less common, but serial cardiac monitoring is crucial for all patients.

Area of Science:

  • Neurology
  • Cardiology
  • Genetics

Background:

  • Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are multisystemic disorders causing skeletal muscle weakness and myotonia.
  • Cardiac involvement is a significant concern in DM1/DM2, yet population-based data on cardiac risks are limited.

Purpose of the Study:

  • To determine the prevalence of cardiac arrhythmias and cardiomyopathy in individuals with DM1 and DM2.
  • To investigate the relationship between cardiac conditions, demographic factors, and age at onset in DM patients.

Main Methods:

  • Cardiac data were collected from 429 individuals with DM1/DM2 diagnosed between 2008 and 2019.
  • Frequencies of cardiac arrhythmias and cardiomyopathy were assessed and correlated with patient demographics and age at onset.

Main Results:

  • Cardiac arrhythmias were observed in 44.5% of patients, while cardiomyopathy occurred in 9.1%.
  • The risk of cardiac arrhythmias was significantly higher in DM1 compared to DM2.
  • Adult or childhood onset of DM1, versus congenital onset, was a risk factor for both cardiac arrhythmia and cardiomyopathy.

Conclusions:

  • This study confirms a substantially increased risk of cardiac arrhythmias in individuals with DM1 and DM2.
  • Cardiomyopathy is a less frequent complication, but the elevated risk of arrhythmias, particularly in DM1, underscores the need for ongoing cardiac surveillance.
Abstract

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