Diagnostic Approach to Unexplained Cardiac Arrest (from the FIVI-Gen Study)

Fecha de publicación: 15/09/2015

Autores de IIS La Fe

Esther Zorio Grima

Autor
Diana Domingo Valero

Autor

Participantes ajenos a IIS La Fe

Jimenez-Jaimez, J
Peinado, R
Segura, F
Morina, P
Munoz, JJS
Mazuelos, F
Cozar, R
Gimeno, JR
Heras, RP
Monserrat, L
Ortiz-Genga, M
Pastor, JF
Alvarez, M
Tercedor, L

Grupos

Hemostasia, Trombosis, Arteriosclerosis y Biología vascular

Investigador Principal

Pilar Medina Badenes

Abstract

Unexplained cardiac arrest (UCA) can be caused by low-penetrance genetic disorders. The aim of this cross-sectional study is to assess the usefulness of a new diagnostic protocol: Thirty-five patients were recruited from 9 Spanish centers. Electrocardiogram, echocardiogram, and coronary catheterization were used to rule out electrical or structural heart disease in all subjects. Patients underwent pharmacologic tests with epinephrine and flecainide, followed by assessment of family members using electrocardiogram and echocardiogram, and next-generation genetic sequencing to analyze 126 genes if all the other test results were negative. A firm diagnosis of channelopathy required phenotypic proof of the condition in unmasking tests, the presence of a pathogenic variant consistent with the phenotype observed, and/or co-segregation of the mutation found in a family member's phenotype. A firm diagnosis was made in 18 cases. The diagnoses were 7 Brugada syndrome, 5 catecholaminergic polymorphic ventricular tachycardia, 3 long QT syndrome, 2 early repolarization syndrome, and 1 short QT syndrome. Pharmacologic testing was the most frequent method of diagnosis. In 5 cases, the diagnosis was made based on positive genetic testing without phenotypic alterations. In conclusion, this sequential diagnostic protocol allows diagnoses to be made in approximately half of the UCA cases. These diagnoses are low clinical penetrance channelopathies. If interpreted carefully, genetic tests can be a useful tool for diagnosing UCA without a phenotype. (C) 2015 Elsevier Inc. All rights reserved.

Datos de la publicación

ISSN/ISSNe:: 0002-9149, 1879-1913
Tipo:: Article
Páginas:: 894-899
DOI:: 10.1016/j.amjcard.2015.06.030
Factor de Impacto:: 2,084 SCImago ℠
Cuartil:: Q1 SCImago ℠

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RED INVESTIGACION (RECAVA)

RD06/0014/0004 . INSTITUTO DE SALUD CARLOS III; FUNDACION PARA LA INV BIOMEDICA- HOSPITAL GREGORIO MARAÑON; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2006