Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children

Abstract

Neuromuscular disorders (NMDs) are highly heterogenous from both an etiological and clinical point of view. Their signs and symptoms are often multisystemic, with frequent cardiac involvement. In fact, childhood onset forms can predispose a person to various progressive cardiac abnormalities including cardiomyopathies (CMPs), valvulopathies, atrioventricular conduction defects (AVCD), supraventricular tachycardia (SVT) and ventricular arrhythmias (VA). In this review, we selected and described five specific NMDs: Friedreich’s Ataxia (FRDA), congenital and childhood forms of Myotonic Dystrophy type 1 (DM1), Kearns Sayre Syndrome (KSS), Ryanodine receptor type 1-related myopathies (RYR1-RM) and Laminopathies. These changes are widely investigated in adults but less researched in children. We focused on these specific topics due their relative frequency and their potential unexpected cardiac manifestations in children. Moreover these conditions present different inheritance patterns and mechanisms of action. We decided not to discuss Duchenne and Becker muscular dystrophies due to extensive work regarding the cardiac aspects in children. For each described NMD, we focused on the possible cardiac manifestations such as different types of CMPs (dilated-DCM, hypertrophic-HCM, restrictive-RCM or left ventricular non compaction-LVNC), structural heart abnormalities (including valvulopathies), and progressive heart rhythm changes (AVCD, SVT, VA). We describe the current management strategies for these conditions. We underline the importance, especially for children, of a serial multidisciplinary personalized approach and the need for periodic surveillance by a dedicated heart team. This is largely due to the fact that in children, the diagnosis of certain NMDs might be overlooked and the cardiac aspect can provide signs of their presence even prior to overt neurological diagnosis.

ICD Outcome in Pediatric Cardiomyopathies

“…Therefore, to our knowledge, the present study is the first report about ICD implantation outcomes in small ACM and DCM pediatric cohorts. Some of our patients with DCM had neuromuscular disease [39]. As already reported, the use of an ICD for Duchenne muscular dystrophy cardiomyopathy may be associated with improved survival rates and minimal complications in patients who show severe LV dysfunction [40,41].…”

Epidemiology of Pediatric Cardiomyopathy in a Mediterranean Population

“…The type and extent of cardiac manifestations are specific to the type of neuromuscular disorder. The most common cardiac findings include the DCM or HCM phenotype [ 29 ]. One adolescent patient with a diagnosis of Duchenne’s muscular dystrophy and the DCM phenotype from the pediatric neuromuscular disorder cohort was enrolled.…”

Epidemiology of Pediatric Cardiomyopathy in a Mediterranean Population

“…The type and extent of cardiac manifestations are specific to the type of neuromuscular disorder. The most common cardiac findings include DCM or HCM phenotype [29]. One adolescent patient with diagnosis of Duchenne's muscular dystrophy and DCM phenotype from the pediatric neuromuscular disorders cohort was enrolled.…”