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...

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Autores principales: Saito, Aki, Ohno, Seiko, Nuruki, Norihito, Nomura, Yuichi, Horie, Minoru, Yoshinaga, Masao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
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.
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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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