Cardiac pacing in 21 patients with Emery-Dreifuss muscular dystrophy: a single-centre study with a 39-year follow-up

Abstract

A b s t r a c tBackground: Emery-Dreifuss muscular dystrophy (EDMD) is a genetic condition associated with cardiac arrhythmias. The patients typically develop early, asymptomatic bradyarrhythmia, which may lead to sudden death, preventable with a cardiac implantable electronic device (CIED). EDMD may be characterised by atrial electrical silence. Intra-operative electrophysiological evaluation of the myocardium helps ultimately determine the true nature of the disorder and select an appropriate CIED. Aim:To analyse permanent electrotherapy procedures in EDMD patients: atrial pacing limitations that stem from the electrophysiological properties of the myocardium and long-term follow-up of implanted devices.Methods: A total of 21 EDMD patients (mean age 29 ± 9 years) with a CIED implanted due to bradyarrhythmia were included in the study. The implantation procedures and factors determining the CIED type selection were analysed.Results: CIEDs were implanted in five women and in 16 men with EDMD types 1 and 2 (mean follow-up: 11 ± 8 years). Intra-operatively assessed atrial electrophysiology resulted in changing the planned CIED type during the procedure in three men with EDMD type 1. Eventually, we implanted: eight DDD, one VDD, 11 VVI, and one CD-DR device, with four of the patients' devices switched later from DDD to VVI mode in response to electrophysiological changes in the atria. Conclusions:Intra-operative assessment of atrial electrophysiological properties resulted in changing the planned DDD mode for VVI in 19% of patients with EDMD type 1. Progression of the underlying disease over a 39-year follow-up resulted in a later change of the initially selected pacing mode from DDD to VVI in 40% of cases.

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

“…In a cohort of 79 Norwegian LMNA DCM patients and asymptomatic family members, 72% presented with AVB and 37% were PM-dependent at the end of the follow-up [16]. The need for pacing in EDMD patients was previously described in a paper by Steckiewicz et al [17], where most of the patients were implanted with a PM and one with an ICD. Of 41 of patients with laminopathy and skeletal muscle involvement described in the paper by Bonne et al, 23 had arrhythmias, 6 were implanted with a PM, and 1 with an ICD, but no more details were provided [10].…”

“…Several longitudinal studies suggested that AF and AFl are the most frequent cardiac arrhythmias in laminopathies [18]. Many patients at first cardiac evaluation already had supraventricular arrythmias present, which may suggest that they are low-symptomatic at early stage of the disease [17]. On the contrary, especially in case of AF and AFl, young patients in the general population usually develop symptoms of arrhythmia.…”

Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy and Related Management Strategies

“…Although patients who develop third-degree heart blocks or atrial standstills are prone to suffer from symptoms such as fatigue and syncope, it is better tolerated by EDMD, which may be a result of patients adapting to a slower rhythm and significant decreased physical activity compared to their peers. 30) In EDMD patients who require a pacemaker for significant bradycardia, introduction of the dual-chamber (DDD) pacing mode is practically limited because a chronic AF is developed. In a longitudinal study, 18 patients with genetically confirmed X-linked or autosomal dominant EDMD were followed for a period ranging from 1 to 30 years.…”

“…This was requested 3-7 years after the first procedure because of the development of chronic AF. 30) In the presence of either atrial standstill or atrial fibrillation/flutter, there is risk of cerebral thromboembolism because of emboli of cardiac origin. Note that a stroke can be the first clinical manifestation of EDMD in young adults and can be disabling.…”

Echocardiographic Features of Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy

“…EDMD patients are at high risk of sudden cardiac death. Many of them require cardiac pacing [4] or implanted cardioverter-defibrillator (ICD) [5].…”