Case Reports: Emery-Dreifuss Muscular Dystrophy Presenting as a Heart Rhythm Disorders in Children.
EMD (emerin)
Emery-Dreifuss muscular dystrophy
LMNA
atrial fibrillation
atrial tachycardia
cardiomyopathy
children
pacemaker implantation
Journal
Frontiers in cardiovascular medicine
ISSN: 2297-055X
Titre abrégé: Front Cardiovasc Med
Pays: Switzerland
ID NLM: 101653388
Informations de publication
Date de publication:
2021
2021
Historique:
received:
15
02
2021
accepted:
07
04
2021
entrez:
24
5
2021
pubmed:
25
5
2021
medline:
25
5
2021
Statut:
epublish
Résumé
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
Identifiants
pubmed: 34026875
doi: 10.3389/fcvm.2021.668231
pmc: PMC8137911
doi:
Types de publication
Case Reports
Langues
eng
Pagination
668231Informations de copyright
Copyright © 2021 Kovalchuk, Yakovleva, Fetisova, Vershinina, Lebedeva, Lyubimtseva, Lebedev, Mitrofanova, Ryzhkov, Sokolnikova, Fomicheva, Kozyreva, Zhuk, Smolina, Zlotina, Pervunina, Kostareva and Vasichkina.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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