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Sudden death in a young patient with atrial fibrillation

María Tamargo, María Ángeles Espinosa, Víctor Gómez-Carrillo, Miriam Juárez, Francisco Fernández-Avilés, Raquel Yotti
  • Víctor Gómez-Carrillo
    Inherited Cardiovascular Disease Program, Cardiology Department, Gregorio Marañón Hospital, Madrid, Spain
  • Miriam Juárez
    Inherited Cardiovascular Disease Program, Cardiology Department, Gregorio Marañón Hospital, Madrid, Spain
  • Francisco Fernández-Avilés
    Inherited Cardiovascular Disease Program, Cardiology Department, Gregorio Marañón Hospital, Madrid, Spain
  • Raquel Yotti
    Inherited Cardiovascular Disease Program, Cardiology Department, Gregorio Marañón Hospital, Madrid, Spain

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.

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Submitted: 2016-09-24 21:26:10
Published: 2017-08-30 15:00:44
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Copyright (c) 2017 María Tamargo, María Ángeles Espinosa, Víctor Gómez-Carrillo, Miriam Juárez, Francisco Fernández-Avilés, Raquel Yotti

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