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Updated: Nov 27, 2025
09:39
Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
Published on: July 29, 2016
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Gender effect on cardiac involvement in myotonic dystrophy type 1
Matteo Garibaldi1, Antonio Lauletta1, Elisabetta Bucci1
1Neuromuscular and Rare Disease Center, Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sapienza University, Sant'Andrea Hospital, Rome, Italy.
European Journal of Neurology
|December 7, 2020
Summary
Males with myotonic dystrophy type 1 (DM1) have a significantly higher risk of cardiac conduction abnormalities (CCAs). While not statistically significant, male gender also showed a trend towards increased cardiac rhythm abnormalities and sudden cardiac death in DM1 patients.
Area of Science:
- Cardiology
- Genetics
- Neuromuscular Disorders
Background:
- Myotonic dystrophy type 1 (DM1) frequently causes cardiac issues, including conduction and rhythm abnormalities (CCRAs), increasing sudden cardiac death (SCD) risk.
- Approximately 80% of DM1 patients experience cardiac involvement.
Purpose of the Study:
- To investigate if gender influences cardiac involvement and SCD in DM1 patients.
- To compare the prevalence and incidence of cardiological abnormalities between males and females with DM1.
Main Methods:
- Analysis of 151 consecutive DM1 patients over a 35-year follow-up.
- Comparison of cardiological abnormalities (CCRAs, cardiac conduction abnormalities - CCAs, cardiac rhythm abnormalities, SCD) between males and females.
- Statistical analysis adjusted for disease severity and genetic factors.
Main Results:
- CCRA and CCAs were significantly more frequent in males than females (p=0.043 and p=0.031).
- Higher prevalence of CCAs was independently associated with male gender after adjusting for disease progression (p=0.039).
- Males showed a higher prevalence of CCRAs and SCD, though not statistically significant.
Conclusions:
- The risk of CCAs in DM1 is significantly higher in males, irrespective of genetic background or disease severity.
- Male gender may also increase the risk for CCRAs and SCD in DM1, warranting further investigation.
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