Arrhythmias in patients with X-linked myotubular myopathy

Introduction. Myotubular myopathy is a congenital muscle disease caused by a mutation in the myotubularin (MTM1) gene. The X-linked myotubular myopathy (XLMTM) affects males with early-onset symptoms such as muscle weakness, hypotonia, and respiratory distress. To our knowledge, cardiac involvement...

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Autores: Pons-Espinal M, Clotet-Caba J, Cesar-Díaz S, Yubero-Siles D
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2023
País:España
Institución:Fundació Sant Joan de Déu
Repositorio:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
OAI Identifier:oai:fsjd.fundanetsuite.com:p24079
Acceso en línea:https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=24079
Access Level:acceso abierto
Palabra clave:Bradyarrhythmia
Cardiac monitoring
Congenital myopathies
Myotubular myopathy
Neuromuscular disorders
Pediatric diseases
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spelling Arrhythmias in patients with X-linked myotubular myopathyPons-Espinal MClotet-Caba JCesar-Díaz SYubero-Siles DBradyarrhythmiaCardiac monitoringCongenital myopathiesMyotubular myopathyNeuromuscular disordersPediatric diseasesIntroduction. Myotubular myopathy is a congenital muscle disease caused by a mutation in the myotubularin (MTM1) gene. The X-linked myotubular myopathy (XLMTM) affects males with early-onset symptoms such as muscle weakness, hypotonia, and respiratory distress. To our knowledge, cardiac involvement has not been previously described in this condition, in contrast to other types of congenital myopathies such as nemaline myopathy or core myopathy. Case reports. We report two clinical cases of XLMTM that started with severe sinus bradycardia or auriculoventricular block from the first days of life, with pathologic 24-hours Holter monitoring in both cases. A primary cardiac affection was excluded by electrophysiological studies and normal heart rate was recovered with proper respiratory support. Discussion. These cases with sever bradyarrhythmia in a well know pathology such the XLMTM represents a nuance on the usual differential diagnostics of congenital myopathies.IMR PRESS2023info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=24079REVISTA DE NEUROLOGIAISSN: 02100010ISSNe: 15766578reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déuinstname:Fundació Sant Joan de DéuEspañolinfo:eu-repo/semantics/openAccessoai:fsjd.fundanetsuite.com:p240792026-05-27T12:37:41Z
dc.title.none.fl_str_mv Arrhythmias in patients with X-linked myotubular myopathy
title Arrhythmias in patients with X-linked myotubular myopathy
spellingShingle Arrhythmias in patients with X-linked myotubular myopathy
Pons-Espinal M
Bradyarrhythmia
Cardiac monitoring
Congenital myopathies
Myotubular myopathy
Neuromuscular disorders
Pediatric diseases
title_short Arrhythmias in patients with X-linked myotubular myopathy
title_full Arrhythmias in patients with X-linked myotubular myopathy
title_fullStr Arrhythmias in patients with X-linked myotubular myopathy
title_full_unstemmed Arrhythmias in patients with X-linked myotubular myopathy
title_sort Arrhythmias in patients with X-linked myotubular myopathy
dc.creator.none.fl_str_mv Pons-Espinal M
Clotet-Caba J
Cesar-Díaz S
Yubero-Siles D
author Pons-Espinal M
author_facet Pons-Espinal M
Clotet-Caba J
Cesar-Díaz S
Yubero-Siles D
author_role author
author2 Clotet-Caba J
Cesar-Díaz S
Yubero-Siles D
author2_role author
author
author
dc.subject.none.fl_str_mv Bradyarrhythmia
Cardiac monitoring
Congenital myopathies
Myotubular myopathy
Neuromuscular disorders
Pediatric diseases
topic Bradyarrhythmia
Cardiac monitoring
Congenital myopathies
Myotubular myopathy
Neuromuscular disorders
Pediatric diseases
description Introduction. Myotubular myopathy is a congenital muscle disease caused by a mutation in the myotubularin (MTM1) gene. The X-linked myotubular myopathy (XLMTM) affects males with early-onset symptoms such as muscle weakness, hypotonia, and respiratory distress. To our knowledge, cardiac involvement has not been previously described in this condition, in contrast to other types of congenital myopathies such as nemaline myopathy or core myopathy. Case reports. We report two clinical cases of XLMTM that started with severe sinus bradycardia or auriculoventricular block from the first days of life, with pathologic 24-hours Holter monitoring in both cases. A primary cardiac affection was excluded by electrophysiological studies and normal heart rate was recovered with proper respiratory support. Discussion. These cases with sever bradyarrhythmia in a well know pathology such the XLMTM represents a nuance on the usual differential diagnostics of congenital myopathies.
publishDate 2023
dc.date.none.fl_str_mv 2023
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=24079
url https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=24079
dc.language.none.fl_str_mv Español
language_invalid_str_mv Español
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv IMR PRESS
publisher.none.fl_str_mv IMR PRESS
dc.source.none.fl_str_mv REVISTA DE NEUROLOGIA
ISSN: 02100010
ISSNe: 15766578
reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname:Fundació Sant Joan de Déu
instname_str Fundació Sant Joan de Déu
reponame_str r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
collection r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
repository.name.fl_str_mv
repository.mail.fl_str_mv
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