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Three cases of catecholaminergic polymorphic ventricular tachycardia with prolonged QT intervals including two cases of compound mutations
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is one of the leading causes of sudden arrhythmic death in the young. The QT interval in CPVT patients is typically within the normal range. However, those with prolonged QT interval have often been diagnosed with mutation‐negative long QT...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010000/ https://www.ncbi.nlm.nih.gov/pubmed/29951146 http://dx.doi.org/10.1002/joa3.12053 |
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author | Saito, Aki Ohno, Seiko Nuruki, Norihito Nomura, Yuichi Horie, Minoru Yoshinaga, Masao |
author_facet | Saito, Aki Ohno, Seiko Nuruki, Norihito Nomura, Yuichi Horie, Minoru Yoshinaga, Masao |
author_sort | Saito, Aki |
collection | PubMed |
description | Catecholaminergic polymorphic ventricular tachycardia (CPVT) is one of the leading causes of sudden arrhythmic death in the young. The QT interval in CPVT patients is typically within the normal range. However, those with prolonged QT interval have often been diagnosed with mutation‐negative long QT syndrome (LQTS). We report three CPVT patients with prolonged QT interval. Case 1 and 2 were diagnosed as LQTS at first. Genetic test using next‐generation sequencing (NGS) revealed RyR2 mutations. We should consider genetic test using NGS to identify the genes responsible for CPVT in mutation‐negative LQTS. |
format | Online Article Text |
id | pubmed-6010000 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-60100002018-06-27 Three cases of catecholaminergic polymorphic ventricular tachycardia with prolonged QT intervals including two cases of compound mutations Saito, Aki Ohno, Seiko Nuruki, Norihito Nomura, Yuichi Horie, Minoru Yoshinaga, Masao J Arrhythm Case Reports Catecholaminergic polymorphic ventricular tachycardia (CPVT) is one of the leading causes of sudden arrhythmic death in the young. The QT interval in CPVT patients is typically within the normal range. However, those with prolonged QT interval have often been diagnosed with mutation‐negative long QT syndrome (LQTS). We report three CPVT patients with prolonged QT interval. Case 1 and 2 were diagnosed as LQTS at first. Genetic test using next‐generation sequencing (NGS) revealed RyR2 mutations. We should consider genetic test using NGS to identify the genes responsible for CPVT in mutation‐negative LQTS. John Wiley and Sons Inc. 2018-04-06 /pmc/articles/PMC6010000/ /pubmed/29951146 http://dx.doi.org/10.1002/joa3.12053 Text en © 2018 The Authors. Journal of Arrhythmia published by John Wiley & Sons Australia, Ltd on behalf of the Japanese Heart Rhythm Society. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes. |
spellingShingle | Case Reports Saito, Aki Ohno, Seiko Nuruki, Norihito Nomura, Yuichi Horie, Minoru Yoshinaga, Masao Three cases of catecholaminergic polymorphic ventricular tachycardia with prolonged QT intervals including two cases of compound mutations |
title | Three cases of catecholaminergic polymorphic ventricular tachycardia with prolonged QT intervals including two cases of compound mutations |
title_full | Three cases of catecholaminergic polymorphic ventricular tachycardia with prolonged QT intervals including two cases of compound mutations |
title_fullStr | Three cases of catecholaminergic polymorphic ventricular tachycardia with prolonged QT intervals including two cases of compound mutations |
title_full_unstemmed | Three cases of catecholaminergic polymorphic ventricular tachycardia with prolonged QT intervals including two cases of compound mutations |
title_short | Three cases of catecholaminergic polymorphic ventricular tachycardia with prolonged QT intervals including two cases of compound mutations |
title_sort | three cases of catecholaminergic polymorphic ventricular tachycardia with prolonged qt intervals including two cases of compound mutations |
topic | Case Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010000/ https://www.ncbi.nlm.nih.gov/pubmed/29951146 http://dx.doi.org/10.1002/joa3.12053 |
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