Cardiomyopathy as the first manifestation of Friedreich s ataxia

Maffei, Rafael Tuzino Leite Neves; Fortuna, Giulio de Los Santos; Rosso, Luca Campolino; Pires, Pedro Dragone; Rondelli, Ivan

doi:10.4322/acr.2020.204

Cited by 1 publication

(1 citation statement)

References 29 publications

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“…The exact role of frataxin in the development of FRDA is not known, and it is hypothesized that a deficiency of this protein causes cellular oxidative stress and iron storage in the heart, in a multifocal manner and, in some cases, the liver and spleen. Although frataxin deficiency is reported in several different tissues, its surplus in the heart is not yet well understood, but it may be related to mitochondrial dysfunction and the generation of oxidative stress in cardiomyocytes [ 14 ].…”

Section: Resultsmentioning

confidence: 99%

Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children

Baban¹,

Lodato²,

Parlapiano

et al. 2021

Biomolecules

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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.

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Section: Resultsmentioning

confidence: 99%