RESUMO
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 pacientes≤45 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
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
Assuntos
Humanos , Masculino , Feminino , Adulto , Síncope/etiologia , Morte Súbita Cardíaca/etiologia , Mutação/genética , Serviços Médicos de Emergência/métodos , Esportes , Cardiopatias/genética , Morte Súbita Cardíaca/epidemiologia , Epidemiologia DescritivaRESUMO
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.
