THE RHYTHM OF SURVIVAL: OVERCOMING ARRHYTHMIC CHAOS IN EMERY- DREIFUSS MUSCULAR DYSTROPHY

Document Type

Conference Proceeding

Publication Date

4-1-2025

Publication Title

J Am Coll Cardiol

Keywords

antiarrhythmic agent, adult, anticoagulation, atrial fibrillation, biventricular implantable cardioverter defibrillator, bradycardia, cardioembolic stroke, case report, cell nucleus membrane, clinical article, conference abstract, echocardiography, Emery Dreifuss muscular dystrophy, fatigue, gene control, gene mutation, gene sequence, genetic screening, heart arrhythmia, heart atrium arrhythmia, heart ventricle fibrillation, heart ventricle tachycardia, human, intercalated disc, lung embolism, male, malignant arrhythmia, muscular dystrophy, paroxysmal supraventricular tachycardia, phenotype, sinus arrest

Abstract

Background: Emery-Dreifuss muscular dystrophy (EDMD) is a rare, X-linked disorder with a range of neuromuscular and cardiac phenotypes. Interestingly, cardiac disease can be the first and only manifestation of EDMD in some patients. Case At age 38, a previously healthy and very active male developed extreme fatigue. Following extensive evaluation, he underwent pacemaker placement for symptomatic junctional bradycardia. Device interrogations noted atrial fibrillation. His course was complicated by a stroke, thought to be cardioembolic, at age 38 and again at age 49, while on anticoagulation. His device was updated to a biventricular ICD following an echocardiogram showing an EF of 30% with severe biatrial enlargement at age 47. He underwent whole gene sequencing, which revealed a nonsense variant of the EMD gene (c.441C>A), not previously known to be pathologic. At age 50, he had his first ICD shock for ventricular tachycardia (VT), which progressed despite antiarrhythmics. Device interrogation also noted innumerable antitachycardia pacing episodes. Transplant evaluation was initiated due to recurrent and high burden of VT and ventricular fibrillation, and he ultimately underwent orthotopic heart transplant (OHT). Decision-making The EMD gene encodes the emerin nuclear envelope protein, important for gene regulation and intercalated disc function in cardiomyocytes. EMD gene mutations result in the X-linked recessive disorder, EDMD. The term “cardiac emerinopathy” describes patients with EDMD who lack neuromuscular symptoms typically seen in muscular dystrophies. Cardiac manifestations of EDMD classically present with conduction abnormalities, including progressive atrial arrhythmias leading to atrial standstill, increasing risk for cardioembolic stroke and pulmonary embolism. Cardiomyopathy is another notable manifestation. And lastly, males with EMD gene variants are high risk for malignant ventricular arrhythmias. Conclusion This case presents extensive cardiac manifestations of EDMD, ultimately requiring OHT, with delayed recognition of etiology. A lower threshold for genetic testing should be had in young patients without obvious causes for cardiomyopathy.

Volume

85

Issue

12

First Page

3030

Find It @ Sladen

Share

COinS