Cardiac Arrhythmias in Muscular Dystrophies Associated with Emerinopathy and Laminopathy: A Cohort Study

Abstract

Introduction: Cardiac involvement in patients with muscular dystrophy associated with Lamin A/C mutations (LMNA) is characterized by atrioventricular conduction abnormalities and life-threatening cardiac arrhythmias. Little is known about cardiac involvement in patients with emerin mutation (EMD). The aim of our study was to describe and compare the prevalence and time distribution of cardiac arrhythmias at extended follow-up. Patients and methods: 45 consecutive patients affected by muscular dystrophy associated to laminopathy or emerinopathy were examined. All patients underwent clinical evaluation, 12-lead surface electrocardiogram (ECG), 24 h electrocardiographic monitoring, and cardiac implanted device interrogation. Results: At the end of 11 (5.0–16.6) years of follow-up, 89% of the patients showed cardiac arrhythmias. The most prevalent was atrial standstill (AS) (31%), followed by atrial fibrillation/flutter (AF/Afl) (29%) and ventricular tachycardia (22%). EMD patients presented more frequently AF/AFl compared to LMNA (50% vs. 20%, p = 0.06). Half of the EMD patients presented with AS, whilst there was no occurrence of such in the LMNA (p = 0.001). Ventricular arrhythmias were found in 60% of patients with laminopathy compared to 3% in patients with emerinopathy (p < 0.001). The age of AVB occurrence was higher in the LMNA group (32.8 +/− 10.6 vs. 25.1 +/− 9.1, p = 0.03). Conclusions: Atrial arrhythmias are common findings in patients with muscular dystrophy associated with EMD/LMNA mutations; however, they occurred earlier in EMD patients. Ventricular arrhythmias were very common (60%) in LMNA and occurred definitely earlier compared to the EMD group.

Predictors of mortality and cardiovascular outcomes in Emery-Dreifuss muscular dystrophy in a long-term follow-up

“…Clinical and echocardiographic parameters as well as cardiac biomarkers were assessed at baseline and then correlated with the clinical course of the disease. Clinical parameters included: heart failure symptoms, atrioventricular (AV) block (determined based on electrocardiographic criteria), atrial fibrillation (paroxysmal, persistent, and permanent), and atrial standstill [4]. The last one, characterized by the absence of electrical and mechanical activity of the atria, is one of the features of EDMD.…”

“…The peripheral muscle's involvement might be benign while the main risk for patients is that of cardiovascular complications [2]. Features of typical cardiomyopathy [3] and typical arrhythmias occurring during the disease [4] have been previously described. The current study aimed to identify predictors of adverse clinical events in a long-term follow-up observation.…”

Nuclear envelope myopathy

“…31 In EDMD2, malignant ventricular arrythmias which required implantation of implantable cardioverter-defibrillator (ICD) were commonly seen. 32 Subsequently, progressive ventricular dysfunction and heart failure become prominent in EDMD2 but not frequent in EDMD1, although echocardiography shows no differences of enlarged atria, dilatation of left ventricle, and left ventricular ejection fraction between EDMD1 and EDMD2. 33 Serum tenascin-C levels may be a helpful marker for at risk of cardiomyopathy.…”

“…Atrial fibrillation/flutter and atrial standstill is common and more frequently observed in EDMD1 than EDMD2, but sudden death was quite rare in EDMD1 after pacemaker implantation 31 . In EDMD2, malignant ventricular arrythmias which required implantation of implantable cardioverter‐defibrillator (ICD) were commonly seen 32 . Subsequently, progressive ventricular dysfunction and heart failure become prominent in EDMD2 but not frequent in EDMD1, although echocardiography shows no differences of enlarged atria, dilatation of left ventricle, and left ventricular ejection fraction between EDMD1 and EDMD2 33 .…”

Diagnosis of Cardiac Abnormalities in Muscular Dystrophies

“…Arrhythmia, cardiomyopathy, atrioventricular block, strokes, heart failure, and sudden death have all been reported for patients suffering from Emery–Dreifuss muscular dystrophy [ 39 , 40 ]. Moreover, for patients suffering from Lamin A/C mutations, the cardiac features are very commonly associated with atrioventricular conduction irregularities, as well as life-threatening cardiac arrhythmias [ 41 ].…”