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Cardiogenetics
Volume 7
Issue 1
10.4081/cardiogenetics.2017.6304
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Cardiogenetics is published by MDPI from Volume 10 Issue 2 (2020). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Case Report

Sudden Death in a Young Patient with Atrial Fibrillation

by
María Tamargo
,
María Ángeles Espinosa
*,
Víctor Gómez-Carrillo
,
Miriam Juárez
,
Francisco Fernández-Avilés
and
Raquel Yotti
Inherited Cardiovascular Disease Program, Cardiology Department, Gregorio Marañón Hospital, 28007 Madrid, Spain
*
Author to whom correspondence should be addressed.
Cardiogenetics 2017, 7(1), 6304; https://doi.org/10.4081/cardiogenetics.2017.6304
Submission received: 24 September 2016 / Accepted: 14 August 2017 / Published: 30 August 2017

Abstract

Sudden cardiac death (SCD) in young patients without structural heart disease is frequently due to inherited channelopathies such as long QT syndrome (LQTS), Brugada syndrome or Catecholaminergic polymorphic ventricular tachycardia. Accordingly, the addition of genetic testing to clinical data may be useful to identify the cause of the sudden death in this population. Mutations in the KCNQ1 encoded Kv7.1 channel are related to type 1 LQTS, familial atrial fibrillation (AF), short QT syndrome, and SCD. We present a clinical case where the presence of AF after resuscitation in a young man with cardiac arrest was the key clinical data to suspect an inherited disorder and genetic testing was the main determinant for identifying the cause of the cardiac arrest. The KCNQ1 p.Arg231His mutation explained the combined phenotype of AF and susceptibility to ventricular arrhythmias. The case highlights the importance of continued research in genetics and molecular mechanisms of channelopathies.
Keywords: KCNQ1; mutation; channelopathy; sudden cardiac death; atrial fibrillation KCNQ1; mutation; channelopathy; sudden cardiac death; atrial fibrillation

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MDPI and ACS Style

Tamargo, M.; Espinosa, M.Á.; Gómez-Carrillo, V.; Juárez, M.; Fernández-Avilés, F.; Yotti, R. Sudden Death in a Young Patient with Atrial Fibrillation. Cardiogenetics 2017, 7, 6304. https://doi.org/10.4081/cardiogenetics.2017.6304

AMA Style

Tamargo M, Espinosa MÁ, Gómez-Carrillo V, Juárez M, Fernández-Avilés F, Yotti R. Sudden Death in a Young Patient with Atrial Fibrillation. Cardiogenetics. 2017; 7(1):6304. https://doi.org/10.4081/cardiogenetics.2017.6304

Chicago/Turabian Style

Tamargo, María, María Ángeles Espinosa, Víctor Gómez-Carrillo, Miriam Juárez, Francisco Fernández-Avilés, and Raquel Yotti. 2017. "Sudden Death in a Young Patient with Atrial Fibrillation" Cardiogenetics 7, no. 1: 6304. https://doi.org/10.4081/cardiogenetics.2017.6304

APA Style

Tamargo, M., Espinosa, M. Á., Gómez-Carrillo, V., Juárez, M., Fernández-Avilés, F., & Yotti, R. (2017). Sudden Death in a Young Patient with Atrial Fibrillation. Cardiogenetics, 7(1), 6304. https://doi.org/10.4081/cardiogenetics.2017.6304

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