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A different background of arrhythmia in siblings with a positive family history of sudden death at young age

We present two symptomatic sisters who had a positive family history of sudden death. None of them had structural heart disease. In the 25‐year‐old proband, complex ventricular arrhythmia, cardiac conduction system disease, and skeletal muscle weakness were found. Genetic examination showed a pathog...

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Autores principales: Stępień‐Wojno, Małgorzata, Franaszczyk, Maria, Bodalski, Robert, Śpiewak, Mateusz, Baranowski, Rafał S., Grzybowski, Jacek, Płoski, Rafał, Bilińska, Zofia T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7358827/
https://www.ncbi.nlm.nih.gov/pubmed/31609036
http://dx.doi.org/10.1111/anec.12707
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author Stępień‐Wojno, Małgorzata
Franaszczyk, Maria
Bodalski, Robert
Śpiewak, Mateusz
Baranowski, Rafał S.
Grzybowski, Jacek
Płoski, Rafał
Bilińska, Zofia T.
author_facet Stępień‐Wojno, Małgorzata
Franaszczyk, Maria
Bodalski, Robert
Śpiewak, Mateusz
Baranowski, Rafał S.
Grzybowski, Jacek
Płoski, Rafał
Bilińska, Zofia T.
author_sort Stępień‐Wojno, Małgorzata
collection PubMed
description We present two symptomatic sisters who had a positive family history of sudden death. None of them had structural heart disease. In the 25‐year‐old proband, complex ventricular arrhythmia, cardiac conduction system disease, and skeletal muscle weakness were found. Genetic examination showed a pathogenic intronic variant in the desmin gene in the proband only. In the elder sister with palpitations, complex ventricular arrhythmia (>46 000 ectopic beats) was removed by radiofrequency ablation. This family case shows that complex ventricular arrhythmia may have different background within one family, genetic examinations should be performed in a person with broadest spectrum of symptoms.
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spelling pubmed-73588272020-07-17 A different background of arrhythmia in siblings with a positive family history of sudden death at young age Stępień‐Wojno, Małgorzata Franaszczyk, Maria Bodalski, Robert Śpiewak, Mateusz Baranowski, Rafał S. Grzybowski, Jacek Płoski, Rafał Bilińska, Zofia T. Ann Noninvasive Electrocardiol Case Reports We present two symptomatic sisters who had a positive family history of sudden death. None of them had structural heart disease. In the 25‐year‐old proband, complex ventricular arrhythmia, cardiac conduction system disease, and skeletal muscle weakness were found. Genetic examination showed a pathogenic intronic variant in the desmin gene in the proband only. In the elder sister with palpitations, complex ventricular arrhythmia (>46 000 ectopic beats) was removed by radiofrequency ablation. This family case shows that complex ventricular arrhythmia may have different background within one family, genetic examinations should be performed in a person with broadest spectrum of symptoms. John Wiley and Sons Inc. 2019-10-14 /pmc/articles/PMC7358827/ /pubmed/31609036 http://dx.doi.org/10.1111/anec.12707 Text en © 2019 The Authors. Annals of Noninvasive Electrocardiology published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Stępień‐Wojno, Małgorzata
Franaszczyk, Maria
Bodalski, Robert
Śpiewak, Mateusz
Baranowski, Rafał S.
Grzybowski, Jacek
Płoski, Rafał
Bilińska, Zofia T.
A different background of arrhythmia in siblings with a positive family history of sudden death at young age
title A different background of arrhythmia in siblings with a positive family history of sudden death at young age
title_full A different background of arrhythmia in siblings with a positive family history of sudden death at young age
title_fullStr A different background of arrhythmia in siblings with a positive family history of sudden death at young age
title_full_unstemmed A different background of arrhythmia in siblings with a positive family history of sudden death at young age
title_short A different background of arrhythmia in siblings with a positive family history of sudden death at young age
title_sort different background of arrhythmia in siblings with a positive family history of sudden death at young age
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7358827/
https://www.ncbi.nlm.nih.gov/pubmed/31609036
http://dx.doi.org/10.1111/anec.12707
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