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Vol. 151. Issue 7.
Pages 270-274 (October 2018)
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Vol. 151. Issue 7.
Pages 270-274 (October 2018)
Original article
DOI: 10.1016/j.medcle.2018.03.026
Genetic mutations of young patients admitted to an emergency department for syncope during sport practice
Mutaciones genéticas en los pacientes jóvenes atendidos en un servicio de urgencias por síncope durante la práctica de deporte
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Jorge Gómez Alcaraza, José Bustamanteb, Ervigio Corralc, Maria Isabel Casado Florezc, David Vivasd, Victoria Cañadas-Godoyd, Juan González del Castilloa,b, Juan Jorge González Armengola,b, Antonio López-Farréa, Francisco Javier Martín Sáncheza,b,
Corresponding author
fjjms@hotmail.com

Corresponding author.
a Facultad de Medicina, Universidad Complutense de Madrid, Madrid, Spain
b Servicio de Urgencias, Hospital Clínico San Carlos, Madrid, Spain
c Servicio de Asistencia Municipal de Urgencia y Rescate (SAMUR-Protección Civil), Ayuntamiento de Madrid, Madrid, Spain
d Servicio de Cardiología, Hospital Clínico San Carlos, Madrid, Spain
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Tables (3)
Table 1. Description of the 60 patients evaluated in the emergency department.
Table 2. Profile of the 46 patients with syncope based on a positive result in the genetic test.
Table 3. Profile of the 46 patients with syncope of whom genetic testing is available based on the clinical diagnosis in the emergency department.
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Abstract
Background and objectives

To study the frequency of genetic mutations related to genetic heart disease among young patients admitted for syncope during sport practice.

Patients and methods

A case series study that included patients ≤45 years admitted for syncope during sport practice during 2010–2011. We collected demographic and clinical variables, genetic tests mutations and final clinical diagnosis.

Results

A genetic test was performed in 46 (76.7%) of 60 patients evaluated. The genetic test was positive in 12 (26%; 95% CI 15.6–40.3) patients; 10 (21.7%) had PKP2 mutation related to arrhythmogenic right ventricular dysplasia mutation, one (2.2%) KCNQ1 mutation and one (2.2%) SCN5A mutation related to channelopathies. The genetic test was positive in 11 (35.5%) cases of undetermined syncope and one (50%) case of cardiac syncope, being negative in all cases with neuromediated syncopes (p=.037).

Conclusions

Gene mutations are common in young patients suffering from syncope during sports, especially in those with cardiac or undetermined aetiology.

Keywords:
Exertional syncope
Sudden cardiac death
Genetic
Resumen
Fundamento y objetivos

Estudiar la frecuencia de mutaciones relacionadas con cardiopatías genéticas entre los pacientes jóvenes atendidos por un síncope durante la práctica de deporte.

Pacientes y métodos

Estudio de una serie de casos que incluyó a pacientes45 años con un síncope relacionado con la práctica del deporte durante 2010–2011. Se recogieron variables demográficas, clínicas, mutaciones genéticas y diagnóstico clínico final.

Resultados

Se realizó un test genético en 46 (76,7%) de los 60 pacientes evaluados. El test genético fue positivo en 12 (26%; IC 95% 15,6–40,3) pacientes, de los cuales 10 (21,7%) tuvieron una mutación para el gen PKP2 de displasia arritmogénica de ventrículo derecho, uno (2,2%) para el gen KCNQ1 y otro (2,2%) para el gen SCN5A, relacionados con canalopatías. El test genético fue positivo en 11 (35,5%) casos con síncope indeterminado y en un (50%) caso con síncope cardiogénico, siendo negativo en todos los casos de síncope neuromediado (p=0,037).

Conclusiones

Las mutaciones genéticas son frecuentes en pacientes jóvenes que presentan un síncope durante la práctica deportiva, especialmente en aquellos con etiología cardiaca o indeterminada.

Palabras clave:
Síncope de esfuerzo
Muerte súbita
Genética

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