Cargando…

Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report

BACKGROUND: Cardiac arrhythmias are sometimes encountered in patients with hereditary myopathies and muscular dystrophies. Description of arrhythmias in myopathies and muscular dystrophies is very important, because arrhythmias have a strong impact on the outcomes for these patients and are potentia...

Descripción completa

Detalles Bibliográficos
Autores principales: Hayakawa, Itaru, Abe, Yuichi, Ono, Hiroshi, Kubota, Masaya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6921593/
https://www.ncbi.nlm.nih.gov/pubmed/31856875
http://dx.doi.org/10.1186/s13052-019-0756-1
_version_ 1783481194947543040
author Hayakawa, Itaru
Abe, Yuichi
Ono, Hiroshi
Kubota, Masaya
author_facet Hayakawa, Itaru
Abe, Yuichi
Ono, Hiroshi
Kubota, Masaya
author_sort Hayakawa, Itaru
collection PubMed
description BACKGROUND: Cardiac arrhythmias are sometimes encountered in patients with hereditary myopathies and muscular dystrophies. Description of arrhythmias in myopathies and muscular dystrophies is very important, because arrhythmias have a strong impact on the outcomes for these patients and are potentially treatable. CASE PRESENTATION: A girl with severe congenital RYR1-related myopathy exhibited atrial tachycardia and sinus node dysfunction during infancy. She was born after uncomplicated caesarian delivery. She showed no breathing, complete ophthalmoplegia, complete bulbar paralysis, complete facial muscle paralysis, and extreme floppiness. At 5 months old, she developed persistent tachycardia around 200–210 beats per minutes. Holter monitoring revealed ectopic atrial tachycardia during tachyarrhythmia and occasional sinus pauses with junctional escape beats. Propranolol effectively alleviated tachyarrhythmia but was discontinued due to increased frequency and duration of the sinus pauses that led to bradyarrhythmia. There was no evidence of structural heart diseases or heart failure. The arrhythmia gradually resolved spontaneously and at 11 months old, she showed complete sinus rhythm. CONCLUSIONS: Although supraventricular arrhythmia is sometimes encountered in congenital myopathies, this is the first report of cardiac arrhythmia requiring drug intervention in RYR1-associated myopathy.
format Online
Article
Text
id pubmed-6921593
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-69215932019-12-30 Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report Hayakawa, Itaru Abe, Yuichi Ono, Hiroshi Kubota, Masaya Ital J Pediatr Case Report BACKGROUND: Cardiac arrhythmias are sometimes encountered in patients with hereditary myopathies and muscular dystrophies. Description of arrhythmias in myopathies and muscular dystrophies is very important, because arrhythmias have a strong impact on the outcomes for these patients and are potentially treatable. CASE PRESENTATION: A girl with severe congenital RYR1-related myopathy exhibited atrial tachycardia and sinus node dysfunction during infancy. She was born after uncomplicated caesarian delivery. She showed no breathing, complete ophthalmoplegia, complete bulbar paralysis, complete facial muscle paralysis, and extreme floppiness. At 5 months old, she developed persistent tachycardia around 200–210 beats per minutes. Holter monitoring revealed ectopic atrial tachycardia during tachyarrhythmia and occasional sinus pauses with junctional escape beats. Propranolol effectively alleviated tachyarrhythmia but was discontinued due to increased frequency and duration of the sinus pauses that led to bradyarrhythmia. There was no evidence of structural heart diseases or heart failure. The arrhythmia gradually resolved spontaneously and at 11 months old, she showed complete sinus rhythm. CONCLUSIONS: Although supraventricular arrhythmia is sometimes encountered in congenital myopathies, this is the first report of cardiac arrhythmia requiring drug intervention in RYR1-associated myopathy. BioMed Central 2019-12-19 /pmc/articles/PMC6921593/ /pubmed/31856875 http://dx.doi.org/10.1186/s13052-019-0756-1 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Hayakawa, Itaru
Abe, Yuichi
Ono, Hiroshi
Kubota, Masaya
Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report
title Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report
title_full Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report
title_fullStr Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report
title_full_unstemmed Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report
title_short Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report
title_sort severe congenital ryr1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6921593/
https://www.ncbi.nlm.nih.gov/pubmed/31856875
http://dx.doi.org/10.1186/s13052-019-0756-1
work_keys_str_mv AT hayakawaitaru severecongenitalryr1associatedmyopathycomplicatedwithatrialtachycardiaandsinusnodedysfunctionacasereport
AT abeyuichi severecongenitalryr1associatedmyopathycomplicatedwithatrialtachycardiaandsinusnodedysfunctionacasereport
AT onohiroshi severecongenitalryr1associatedmyopathycomplicatedwithatrialtachycardiaandsinusnodedysfunctionacasereport
AT kubotamasaya severecongenitalryr1associatedmyopathycomplicatedwithatrialtachycardiaandsinusnodedysfunctionacasereport