Pilsicainide Administration Unmasks a Phenotype of Brugada Syndrome in a Patient with Overlap Syndrome due to the E1784K SCN5A Mutation

Mutations in the cardiac sodium channel SCN5A can cause phenotypic overlap syndrome of long QT syndrome and Brugada syndrome. However, Brugada-type ST elevations in patients with overlap syndrome are often concealed, which creates a diagnostic challenge. A 38-year-old man was admitted due to ventric...

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Autores principales: Hasebe, Hideyuki, Yokoya, Tomoyo, Murakoshi, Nobuyuki, Kurebayashi, Nobutake
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6995720/
https://www.ncbi.nlm.nih.gov/pubmed/31484910
http://dx.doi.org/10.2169/internalmedicine.3430-19
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author Hasebe, Hideyuki
Yokoya, Tomoyo
Murakoshi, Nobuyuki
Kurebayashi, Nobutake
author_facet Hasebe, Hideyuki
Yokoya, Tomoyo
Murakoshi, Nobuyuki
Kurebayashi, Nobutake
author_sort Hasebe, Hideyuki
collection PubMed
description Mutations in the cardiac sodium channel SCN5A can cause phenotypic overlap syndrome of long QT syndrome and Brugada syndrome. However, Brugada-type ST elevations in patients with overlap syndrome are often concealed, which creates a diagnostic challenge. A 38-year-old man was admitted due to ventricular fibrillation (VF). The 12-lead electrocardiogram showed a prolonged QT interval and saddleback-type ST elevation. Pilsicainide administration induced coved-type ST elevation and VF triggered by a single premature ventricular contraction. A genetic analysis showed an SCN5A c.5350G>A p.E1784K mutation. The present case suggests the importance of a drug administration test being performed in the clinical management of overlap syndrome.
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spelling pubmed-69957202020-02-03 Pilsicainide Administration Unmasks a Phenotype of Brugada Syndrome in a Patient with Overlap Syndrome due to the E1784K SCN5A Mutation Hasebe, Hideyuki Yokoya, Tomoyo Murakoshi, Nobuyuki Kurebayashi, Nobutake Intern Med Case Report Mutations in the cardiac sodium channel SCN5A can cause phenotypic overlap syndrome of long QT syndrome and Brugada syndrome. However, Brugada-type ST elevations in patients with overlap syndrome are often concealed, which creates a diagnostic challenge. A 38-year-old man was admitted due to ventricular fibrillation (VF). The 12-lead electrocardiogram showed a prolonged QT interval and saddleback-type ST elevation. Pilsicainide administration induced coved-type ST elevation and VF triggered by a single premature ventricular contraction. A genetic analysis showed an SCN5A c.5350G>A p.E1784K mutation. The present case suggests the importance of a drug administration test being performed in the clinical management of overlap syndrome. The Japanese Society of Internal Medicine 2019-09-03 2020-01-01 /pmc/articles/PMC6995720/ /pubmed/31484910 http://dx.doi.org/10.2169/internalmedicine.3430-19 Text en Copyright © 2020 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Hasebe, Hideyuki
Yokoya, Tomoyo
Murakoshi, Nobuyuki
Kurebayashi, Nobutake
Pilsicainide Administration Unmasks a Phenotype of Brugada Syndrome in a Patient with Overlap Syndrome due to the E1784K SCN5A Mutation
title Pilsicainide Administration Unmasks a Phenotype of Brugada Syndrome in a Patient with Overlap Syndrome due to the E1784K SCN5A Mutation
title_full Pilsicainide Administration Unmasks a Phenotype of Brugada Syndrome in a Patient with Overlap Syndrome due to the E1784K SCN5A Mutation
title_fullStr Pilsicainide Administration Unmasks a Phenotype of Brugada Syndrome in a Patient with Overlap Syndrome due to the E1784K SCN5A Mutation
title_full_unstemmed Pilsicainide Administration Unmasks a Phenotype of Brugada Syndrome in a Patient with Overlap Syndrome due to the E1784K SCN5A Mutation
title_short Pilsicainide Administration Unmasks a Phenotype of Brugada Syndrome in a Patient with Overlap Syndrome due to the E1784K SCN5A Mutation
title_sort pilsicainide administration unmasks a phenotype of brugada syndrome in a patient with overlap syndrome due to the e1784k scn5a mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6995720/
https://www.ncbi.nlm.nih.gov/pubmed/31484910
http://dx.doi.org/10.2169/internalmedicine.3430-19
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