Clinical Relevance of Atrial Fibrillation/Flutter, Stroke, Pacemaker Implant, and Heart Failure in Emery-Dreifuss Muscular Dystrophy

Abstract

Both X-linked and autosomal dominant EDMD patients risk not only bradyarrhythmia (requiring pacemaker implant) but also atrial fibrillation/flutter, which often anticipates atrial standstill and can cause disabling embolic stroke at a relatively young age. Antithromboembolic prophylaxis has to be recommended in EDMD patients with atrial fibrillation/flutter or atrial standstill. With careful monitoring, survival after pacemaker implant may be long. Heart failure, which seems to occur only in a minority of patients, may be severe.

Cardiolaminopathies from bench to bedside: challenges in clinical decision-making with focus on arrhythmia-related outcomes

“…In Emery-Dreifuss muscular dystrophy [1], cardiac abnormalities, leading to life-threatening bradyarrhythmias either of sinus and atrial origin (sino-atrial blocks, atrial standstill) or atrioventricular blocks (up to third degree atrioventricular block), ventricular tachyarrhythmias, sudden death and dilated cardiomyopathy with heart failure of variable degree are not strictly correlated with the severity of the neuromuscular disease affecting the skeletal muscles [4]. Figure 1 shows the phenotypic cardiac manifestations of laminopathies, which are frequently mixed in complex clinical patterns.…”

“…The most common clinical manifestations are dizziness, syncope, palpitations, or even ischemic stroke due to cardioembolism (in the case of atrial fibrillation or atrial standstill) but also ventricular tachyarrhythmias and sudden death and/or worsening heart failure may occur, the latter usually at a later stage in the course of the disease [4,21–24]. We will describe the clinical characteristics of these symptoms, focusing on the need for a disease-oriented decision-making.…”

“…Bradyarrhythmias and supraventricular tachyarrhythmias are common features in laminopathies and often anticipate by decades the development of heart failure due to dilated cardiomyopathy [4,24]. Supraventricular arrhythmias include atrial flutter, atrial fibrillation, and atrial tachycardia, and may be associated with sinus node dysfunction (i.e.…”

“…tachycardia-bradycardia syndrome). Atrial bradycardia at a young age (early second decade to fourth decade), followed by evolution to atrial standstill and with associated high-grade atrioventricular block or complete atrio-ventricular block are typical features of X-linked Emery-Dreifuss muscular dystrophy and pacemaker implant may be necessary even on an emergency basis, for syncope or low cardiac output, at an age around 20 [4], Table 1 shows the results of a complete review of the literature, with data on the specific arrhythmic profile of patients with various forms of laminopathies, according to genetic characterization.…”

“…Atrial fibrillation has been reported in around 60% of patients with a cardiolaminopathy [4,27], often with atrial fibrillation occurring at a young age (12–20 years) as the first cardiac manifestation of the disease, with or without neuromuscular symptoms [4]. In patients with cardiolaminopathy with the pattern of a dilated cardiomyopathy, the prevalence of atrial fibrillation is higher than 90% [27].…”