Cargando…
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...
Autores principales: | , , , , , , , |
---|---|
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 |
_version_ | 1783558921793830912 |
---|---|
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. |
format | Online Article Text |
id | pubmed-7358827 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT stepienwojnomałgorzata adifferentbackgroundofarrhythmiainsiblingswithapositivefamilyhistoryofsuddendeathatyoungage AT franaszczykmaria adifferentbackgroundofarrhythmiainsiblingswithapositivefamilyhistoryofsuddendeathatyoungage AT bodalskirobert adifferentbackgroundofarrhythmiainsiblingswithapositivefamilyhistoryofsuddendeathatyoungage AT spiewakmateusz adifferentbackgroundofarrhythmiainsiblingswithapositivefamilyhistoryofsuddendeathatyoungage AT baranowskirafałs adifferentbackgroundofarrhythmiainsiblingswithapositivefamilyhistoryofsuddendeathatyoungage AT grzybowskijacek adifferentbackgroundofarrhythmiainsiblingswithapositivefamilyhistoryofsuddendeathatyoungage AT płoskirafał adifferentbackgroundofarrhythmiainsiblingswithapositivefamilyhistoryofsuddendeathatyoungage AT bilinskazofiat adifferentbackgroundofarrhythmiainsiblingswithapositivefamilyhistoryofsuddendeathatyoungage AT stepienwojnomałgorzata differentbackgroundofarrhythmiainsiblingswithapositivefamilyhistoryofsuddendeathatyoungage AT franaszczykmaria differentbackgroundofarrhythmiainsiblingswithapositivefamilyhistoryofsuddendeathatyoungage AT bodalskirobert differentbackgroundofarrhythmiainsiblingswithapositivefamilyhistoryofsuddendeathatyoungage AT spiewakmateusz differentbackgroundofarrhythmiainsiblingswithapositivefamilyhistoryofsuddendeathatyoungage AT baranowskirafałs differentbackgroundofarrhythmiainsiblingswithapositivefamilyhistoryofsuddendeathatyoungage AT grzybowskijacek differentbackgroundofarrhythmiainsiblingswithapositivefamilyhistoryofsuddendeathatyoungage AT płoskirafał differentbackgroundofarrhythmiainsiblingswithapositivefamilyhistoryofsuddendeathatyoungage AT bilinskazofiat differentbackgroundofarrhythmiainsiblingswithapositivefamilyhistoryofsuddendeathatyoungage |