Cardiac involvement in a cross‐sectional cohort of myotonic dystrophies and other skeletal myopathies

Abstract

Aims Cardiac involvement in myopathies that primarily affect the skeletal muscle is variable and may be subtle, necessitating sensitive diagnostic approaches. Here, we describe the prevalence of cardiac abnormalities in a cohort of patients with skeletal muscle disease presenting at a tertiary care neuromuscular centre. Methods and results We systematically investigated patients with skeletal myopathies and comprehensively analysed their cardiac phenotype including 24 h electrocardiogram, echocardiography with strain analyses, contrast-enhanced cardiac magnetic resonance imaging, and, if at increased risk of coronary artery disease, computed tomography coronary angiography. We prospectively screened 91 patients with diverse skeletal myopathies and enrolled 73 patients. The most pronounced cardiac involvement was present in patients with dystrophic myopathies (cardiac abnormalities in 59% of patients). We analysed myotonic dystrophies (n = 29) in more detail and found prolonged QRS (99.4 ± 15.6 vs. 91.5 ± 10.3 ms; P = 0.027) and QTc times (441.1 ± 28.1 vs. 413.0 ± 23.3 ms; P < 0.001) and increased left atrial size (27.28 ± 3.9 vs. 25.0 ± 3.2 mm/m 2 ; P = 0.021) when compared with healthy controls. Left ventricular systolic function was reduced (ejection fraction < 55%) in 31% of myotonic dystrophies, while only 4% had an ejection fraction < 50%. Apical peak systolic longitudinal strain was slightly reduced (P = 0.023). Conclusions Screening for cardiac involvement in the skeletal muscle disease seems prudent particularly in patients with dystrophic myopathies. In the subset of myotonic dystrophy patients, QRS and QTc times as well as myocardial strain may be useful parameters. Their potential for predicting cardiac adverse events needs further evaluation.

Notfälle bei Patienten mit neuromuskulären Erkrankungen

“…eine frühzeitige Therapie empfohlen werden. Neben Rhythmusstörungen variablen Ausmaßes kommen bei einer Vielzahl von Muskeldystrophien dilatative Kardiomyopathien mit der Gefahr der kardialen Dekompensation, des plötzlichen Herztodes oder thromboembolischer Ereignisse vor [6]. Durch die Mitbeteiligung des autonomen Nervensystems bei einigen inflammatorischen Neuropathien wie der akuten inflammatorischen demyelinisierenden Poly(-radikulo-)Neuropathie (AIDP) können ebenso kardiale Arrhythmien auftreten [7].…”

Reply to: More data about cardiac and neurologic findings would be useful

“…We thank Stöllberger et al . for their interest in our study, 1 and we gladly report additional information.…”

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We thank Stöllberger et al for their interest in our study, 1 and we gladly report additional information.Cardiac magnetic resonance (cMR) images were reviewed in patients with myotonic dystrophies (available in 26/29 patients) focussing on left ventricular (LV) non-compaction. We found a mean diastolic ratio of non-compacted/ compacted myocardium (NC/C) of 1.41 ± 0.57.

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Subclinical cardiac involvement present as electrocardiographic abnormalities in various neuromuscular diseases

“…A variety of neuromuscular diseases (NMDs) are associated with progressive cardiac involvement during disease course, presenting as compromised clinical cardiac function and arrhythmia-related palpitation, syncope, or even sudden cardiac death due to myocardial impairment and conduction system disorders [ [1] , [2] , [3] , [4] , [5] , [6] , [7] , [8] ]. The initial cardiac manifestations in these patients are often asymptomatic but can ultimately lead to fatal consequence if identification and intervention are delayed.…”