Evaluation of echocardiography monitoring in myotonic dystrophy type 1 patients
D S H Bovenkerk1,2, C E W Janssen1, F M A Van den Heuvel3
1Department of Neurology, School for Mental Health and Neuroscience, Maastricht University Medical Center, Maastricht, Netherlands.
Insights
Myotonic Dystrophy type 1 (DM1) patients show low rates of left ventricular (LV) dysfunction, increasing slowly over time. A widened QRS interval on ECG correlates with LV dysfunction, suggesting tailored echocardiography screening for DM1.
Area of Science:
- Cardiology
- Neurology
- Genetics
Background:
- Myotonic Dystrophy type 1 (DM1) is a prevalent genetic neuromuscular disorder.
- Cardiac involvement, including left ventricular (LV) dysfunction, is a known complication requiring monitoring.
- Current recommendations for echocardiographic follow-up intervals in DM1 patients vary significantly.
Purpose of the Study:
- To evaluate the long-term prevalence of LV dysfunction in DM1 patients via echocardiographic follow-up.
- To assess the association between echocardiographic findings, ECG parameters, and clinical data in DM1.
- To inform optimal screening intervals for cardiac complications in DM1.
Main Methods:
- Retrospective cohort study of 273 DM1 patients (aged >18) from the Dutch DM1 patient registry (MYODRAFT).
- Echocardiographic and clinical data collected between January 2010 and December 2023.
- Correlation analysis between echocardiographic parameters, ECG, and clinical/neuromuscular status.
Main Results:
- Baseline LV dysfunction (LVEF <50% and/or LV dilatation) was observed in 7.3% of patients.
- The prevalence of newly detected LV dysfunction increased gradually over follow-up: 3% at baseline to 8% beyond 72 months.
- A widened QRS interval on ECG (125 ± 31 ms) significantly correlated with LV dysfunction (p=0.007).
- The median interval to developing detectable LV dysfunction was 15.1 years post-DM1 diagnosis.
Conclusions:
- LV dysfunction occurs in a minority of DM1 patients, progressing slowly over many years.
- Widened QRS interval is a significant predictor of LV dysfunction in DM1, potentially guiding screening.
- Routine echocardiography is beneficial, but intervals could be extended to approximately 5 years for asymptomatic DM1 patients due to the disease's slow progression.
Introduction:
Myotonic Dystrophy type 1 (DM1) is the most prevalent genetic neuromuscular disorder. The potential cardiac involvement, including arrhythmia and left ventricular dysfunction, demands routine follow-up with ECG and echocardiography, however recommendations on the interval of echocardiographic follow-up varies substantially. The aim of this study is to evaluate the long-term prevalence of LV dysfunction during echocardiographic follow-up of patients with DM1. Secondly, we aim to assess the association between structural abnormalities on echocardiography, ECG and clinical parameters.
Methods:
This retrospective cohort study with DM1 patients was conducted in Maastricht University Medical Center (MUMC+) and Radboud University Medical Center. All patients above 18 years old were included through the Dutch DM1 patient registry (MYODRAFT study). Patients were evaluated between January 2010 and December 2023. A total of 273 patients were included, in whom echocardiographic data was collected and correlated with clinical data, neuromuscular status and ECG parameters.
Results:
At baseline 20/273 (7.3%) patients had LV dysfunction (LVEF < 50% and/or LV dilatation). When newly detected LVEF <50% alone is considered then the yield of routine echocardiography follow-up was: 9/273 at baseline (3%), 2/84 at 36 months (2%), 9/184 at 72 months (5%) and 10/117 at the interval beyond 72 months (8%). The only clear correlation between ECG and echocardiography abnormalities was a widened QRS interval 125 ± 31 ms vs. 103 ± 19 ms (p = 0.007). This was also demonstrated in the multivariable analysis. Of the DM1 patients developing LV dysfunction, the median interval between the diagnosis of DM1 and the first echocardiogram detecting LV dysfunction was 181 months (15.1 years) with an interquartile range of 85-301 months (7.0-25.1 years).
Discussion:
Based on the data of this large retrospective study, the occurrence of LV dysfunction in DM1 patients is rather low (7.4%) at baseline and increases with 6.5% at 72 months follow-up. There is a significant correlation between LV dysfunction and a widened QRS interval. Which could prompt earlier echocardiographic follow up in this patient group. Routine echocardiography is useful in DM1 however the interval of echocardiography could be shifted more towards 5 years in asymptomatic patients because of the slow progressive nature of the disease.
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