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Published on: January 12, 2019
Cardiac involvement in myotonic dystrophy, Becker muscular dystrophy and mitochondrial myopathy: a five-year
J Finsterer1, C Stöllberger, G Blazek
1Ludwig Boltzmann Institute for Research in Neuromuscular Disorders, Vienna, Austria. fij@2nr.magwien.gv.at
Insights
Cardiac involvement is common in myotonic dystrophy (MD), Becker muscular dystrophy (BMD), and mitochondrial myopathy (MMP), but significant progression over five years is rare. Regular cardiac investigation is recommended for these neuromuscular conditions.
Area of Science:
- Cardiology
- Neurology
- Genetics
Background:
- Cardiac involvement (CI) is a known complication in myotonic dystrophy (MD), Becker muscular dystrophy (BMD), and mitochondrial myopathy (MMP).
- The long-term progression of CI in these conditions requires further investigation.
Purpose of the Study:
- To evaluate the five-year progression of cardiac involvement in patients with MD, BMD, and MMP.
- To define the prevalence and changes in CI using various diagnostic methods.
Main Methods:
- A five-year follow-up study involving patients with MD, BMD, and MMP.
- Cardiac assessment included medical history, physical examination, electrocardiography, 24-hour ambulatory ECG, and transthoracic echocardiography.
- Outcome measures comprised muscular disability, CI scores, and overall abnormality scores.
Main Results:
- Cardiac involvement was frequent at baseline across all three myopathy groups.
- Over five years, significant progression of CI was observed in only a few patients.
- The most common abnormalities involved patient history, ECG, and echocardiography, with varying changes in abnormality scores per group.
Conclusions:
- Cardiac involvement is a prevalent finding in MD, BMD, and MMP patients.
- Progression of CI over a five-year period is uncommon.
- Cardiological monitoring and intervention should be guided by symptomatic presentation or severe ECG/echocardiographic findings.
Objective:
To assess the progression of cardiac involvement (CI), defined as 'definite', 'possible' or 'absent', based on history, clinical examination, electrocardiography, 24 h ambulatory electrocardiography and transthoracic echocardiography in patients with myotonic dystrophy (MD), Becker muscular dystrophy (BMD) and mitochondrial myopathy (MMP) over five years.
Design:
An investigational, follow-up study.
Setting:
A neurological and cardiological department in Austria.
Patients:
Thirteen patients aged 29 to 60 years with MD, five patients aged 23 to 68 years with BMD and 10 patients aged 24 to 73 years with MMP.
Main Outcome Measures:
Muscular disability score, CI score and sum of abnormality score.
Results:
Five patients (two with MD, one with BMD, two with MMP) died during the observational period, one died presumably from rhythm abnormalities. One patient refused to join the follow-up. At baseline/five years later, CI was 'definite' in 12/10, four/four and six/three; 'possible' in one/one, one/zero and three/four; and 'absent' in zero/zero, zero/zero and one/zero of the patients with MD, BMD and MMP, respectively. The most frequent abnormal investigations at baseline/five years later were the history (BMD/MD), the electrocardiogram (MD/MD) and the echocardiography (MMP/BMD). The mean number of abnormalities per patient with MD, BMD and MMP at baseline/five years later was 4.5/4.8, 5.6/8.3 and 4.1/3.4, respectively.
Conclusions:
CI is a frequent finding in patients with MD, BMD and MMP, but progression of CI within five years is found only in single cases. Patients with MD, BMD or MMP should be cardiologically investigated and treated only if CI becomes symptomatic, or if severe electrocardiographic or echocardiographic abnormalities are present.
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