Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children

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 includi...

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Autores principales:	Anwar Baban, Valentina Lodato, Giovanni Parlapiano, Corrado di Mambro, Rachele Adorisio, Enrico Silvio Bertini, Carlo Dionisi-Vici, Fabrizio Drago, Diego Martinelli
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	neuromuscular disorders cardiac involvement heterogeneity age related penetrance anticipation rarity Microbiology QR1-502
Acceso en línea:	https://doaj.org/article/987ea053af7342c4b76cb0fd5785834d
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spelling	oai:doaj.org-article:987ea053af7342c4b76cb0fd5785834d2021-11-25T16:52:11ZMyocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children10.3390/biom111115782218-273Xhttps://doaj.org/article/987ea053af7342c4b76cb0fd5785834d2021-10-01T00:00:00Zhttps://www.mdpi.com/2218-273X/11/11/1578https://doaj.org/toc/2218-273XNeuromuscular 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 (<i>RYR1</i>-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.Anwar BabanValentina LodatoGiovanni ParlapianoCorrado di MambroRachele AdorisioEnrico Silvio BertiniCarlo Dionisi-ViciFabrizio DragoDiego MartinelliMDPI AGarticleneuromuscular disorderscardiac involvementheterogeneityage related penetranceanticipationrarityMicrobiologyQR1-502ENBiomolecules, Vol 11, Iss 1578, p 1578 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	neuromuscular disorders cardiac involvement heterogeneity age related penetrance anticipation rarity Microbiology QR1-502
spellingShingle	neuromuscular disorders cardiac involvement heterogeneity age related penetrance anticipation rarity Microbiology QR1-502 Anwar Baban Valentina Lodato Giovanni Parlapiano Corrado di Mambro Rachele Adorisio Enrico Silvio Bertini Carlo Dionisi-Vici Fabrizio Drago Diego Martinelli Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children
description	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 (<i>RYR1</i>-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.
format	article
author	Anwar Baban Valentina Lodato Giovanni Parlapiano Corrado di Mambro Rachele Adorisio Enrico Silvio Bertini Carlo Dionisi-Vici Fabrizio Drago Diego Martinelli
author_facet	Anwar Baban Valentina Lodato Giovanni Parlapiano Corrado di Mambro Rachele Adorisio Enrico Silvio Bertini Carlo Dionisi-Vici Fabrizio Drago Diego Martinelli
author_sort	Anwar Baban
title	Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children
title_short	Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children
title_full	Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children
title_fullStr	Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children
title_full_unstemmed	Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children
title_sort	myocardial and arrhythmic spectrum of neuromuscular disorders in children
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/987ea053af7342c4b76cb0fd5785834d
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_version_	1718412910918631424

Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children

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