Case Reports: Emery-Dreifuss Muscular Dystrophy Presenting as a Heart Rhythm Disorders in Children

Abstract

Emery-Dreifuss muscular dystrophy (EDMD) is inherited muscle dystrophy often accompanied by cardiac abnormalities in the form of supraventricular arrhythmias, conduction defects and sinus node dysfunction. Cardiac phenotype typically arises years after skeletal muscle presentation, though, could be severe and life-threatening. The defined clinical manifestation with joint contractures, progressive muscle weakness and atrophy, as well as cardiac symptoms are observed by the third decade of life. Still, clinical course and sequence of muscle and cardiac signs may be variable and depends on the genotype. Cardiac abnormalities in patients with EDMD in pediatric age are not commonly seen. Here we describe five patients with different forms of EDMD (X-linked and autosomal-dominant) caused by the mutations in EMD and LMNA genes, presented with early onset of cardiac abnormalities and no prominent skeletal muscle phenotype. The predominant forms of cardiac pathology were atrial arrhythmias and conduction disturbances that progress over time. The presented cases discussed in the light of therapeutic strategy, including radiofrequency ablation and antiarrhythmic devices implantation, and the importance of thorough neurological and genetic screening in pediatric patients presenting with complex heart rhythm disorders.

Cardiac manifestations and clinical management of X-linked Emery-Dreifuss muscular dystrophy: a case series

“…Previous case studies have described success with atrial ablation procedure in paediatric and young adult EDMD patients, in which patients present with various types of supraventricular arrhythmias. 16 , 17 Butt et al demonstrated a successful approach to atrial ablation using 3D mapping on a 21-year-old male EDMD patient presenting with sustained VT and atrial flutter. 17 Unsuccessful ablation have been linked to adverse outcomes including systolic dysfunction, embolic stroke, and heart transplant in this cohort.…”

“… 17 Unsuccessful ablation have been linked to adverse outcomes including systolic dysfunction, embolic stroke, and heart transplant in this cohort. 16 , 18 , 19…”

“…There is a high prevalence of disabling embolic stroke in EDMD patients untreated with anticoagulation or aspirin treatment. 16 , 20 , 21 Current guidelines for heart failure cohorts have not been validated in EDMD management nor are they tailored to patients with rare diseases. The CHADSVasc score for AF stroke risk has not been validated in the EDMD population and the use of anticoagulation and antiplatelet therapy in EDMD patients is controversial.…”

Nova mutação no gene EMD em uma família brasileira com diagnóstico de distrofia muscular de Emery-Dreifuss: Dois relatos de caso e revisão da literatura

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