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Revista Española de Cardiología (English Edition) Revista Española de Cardiología (English Edition)
Rev Esp Cardiol. 2017;70:808-16 - Vol. 70 Num.10 DOI: 10.1016/j.rec.2017.04.024

Clinical and Genetic Diagnosis of Nonischemic Sudden Cardiac Death

Juan Jiménez-Jáimez a,, Vicente Alcalde Martínez a, Miriam Jiménez Fernández a, Francisco Bermúdez Jiménez a, María del Mar Rodríguez Vázquez del Rey b, Francesca Perin b, José Manuel Oyonarte Ramírez a, Silvia López Fernández a, Inmaculada de la Torre a, Rocío García Orta a, Mercedes González Molina a, Elisa María Cabrerizo c, Beatriz Álvarez Abril a, Miguel Álvarez a, Rosa Macías Ruiz a, Concepción Correa a, Luis Tercedor a

a Unidad de Arritmias, Complejo Hospitalario Universitario de Granada, Granada, Spain
b Unidad de Cardiología Infantil, Complejo Hospitalario Universitario de Granada, Granada, Spain
c Servicio de Patología Forense, Instituto de Medicina Legal, Granada, Spain

Keywords

Sudden cardiac death. Genetic testing. Cardiomyopathies. Arrhythmias. Ventricular fibrillation.

Abstract

Introduction and objectives

Nonischemic sudden cardiac death (SCD) is predominantly caused by cardiomyopathies and channelopathies. There are many diagnostic tests, including some complex techniques. Our aim was to analyze the diagnostic yield of a systematic diagnostic protocol in a specialized unit.

Methods

The study included 56 families with at least 1 index case of SCD (resuscitated or not). Survivors were studied with electrocardiogram, advanced cardiac imaging, exercise testing, familial study, genetic testing and, in some cases, pharmacological testing. Families with deceased probands were studied using the postmortem findings, familial evaluation, and molecular autopsy with next-generation sequencing (NGS).

Results

A positive diagnosis was obtained in 80.4% of the cases, with no differences between survivors and nonsurvivors (P = .53). Cardiac channelopathies were more prevalent among survivors than nonsurvivors (66.6% vs 40%, P = .03). Among the 30 deceased probands, the definitive diagnosis was given by autopsy in 7. A diagnosis of cardiomyopathy tended to be associated with a higher event rate in the family. Genetic testing with NGS was performed in 42 index cases, with a positive result in 28 (66.6%), with no differences between survivors and nonsurvivors (P = .21).

Conclusions

There is a strong likelihood of reaching a diagnosis in SCD after a rigorous protocol, with a more prevalent diagnosis of channelopathy among survivors and a worse familial prognosis in cardiomyopathies. Genetic testing with NGS is useful and its value is increasing with respect to the Sanger method.

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1885-5857/© 2017 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved