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Oct 25, 2021;11 (11):

Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children.

Anwar Baban, Valentina Lodato, Giovanni Parlapiano, Corrado di Mambro, Rachele Adorisio, Enrico Silvio Bertini, Carlo Dionisi-Vici, Fabrizio Drago, Diego Martinelli
Author Information
  1. Anwar Baban: The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Department of Pediatric Cardiology and Cardiac Surgery, Heart and Lung Transplantation, Bambino Gesù Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy.
  2. Valentina Lodato: The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Department of Pediatric Cardiology and Cardiac Surgery, Heart and Lung Transplantation, Bambino Gesù Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy.
  3. Giovanni Parlapiano: Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy. ORCID
  4. Corrado di Mambro: The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Department of Pediatric Cardiology and Cardiac Surgery, Heart and Lung Transplantation, Bambino Gesù Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy.
  5. Rachele Adorisio: The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Department of Pediatric Cardiology and Cardiac Surgery, Heart and Lung Transplantation, Bambino Gesù Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy. ORCID
  6. Enrico Silvio Bertini: The European Reference Network for Neuromuscular Disorders (ERN NMD), Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children Hospital and Research Institute, IRCCS, 00146 Rome, Italy.
  7. Carlo Dionisi-Vici: Division of Metabolism, Bambino Gesù Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy.
  8. Fabrizio Drago: The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Department of Pediatric Cardiology and Cardiac Surgery, Heart and Lung Transplantation, Bambino Gesù Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy.
  9. Diego Martinelli: Division of Metabolism, Bambino Gesù Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy.
PMID: 34827576 DOI: 10.3390/biom11111578

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 (-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.

Keywords

age related penetrance anticipation cardiac involvement heterogeneity neuromuscular disorders rarity

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MeSH Term

Humans
Child
Arrhythmias, Cardiac
Neuromuscular Diseases
Cardiomyopathies
Myotonic Dystrophy
Friedreich Ataxia
Kearns-Sayre Syndrome
Journal Article Review
Article has an altmetric score of 1

Word Cloud

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