RESUMO
BACKGROUND: All family members of patients with Brugada syndrome (BS) should be screened. Fluctuations between diagnostic and nondiagnostic electrocardiogram (ECG) patterns in patients with BS are recognized, but systematic studies are lacking. The objective of this work was to prospectively evaluate the spontaneous changes between diagnostic and nondiagnostic ECG patterns in a family screened for BS. METHODS: One hundred twenty-nine family members were possibly affected plus the index case were screened with two ECGs with an interval of 6 months. Only coved-type ECG pattern was defined as diagnostic; type 2 and 3 ECGs were considered suggestive. RESULTS: The first ECG series made six diagnostics and the second 11, but only three patients maintained the diagnostic ECG. Patients with basal diagnostic ECG were older and more frequently symptomatic. Body mass index (BMI) was significantly lower in adults with diagnostic plus suggestive ECG when compared with the others. No significant gender difference was found among relatives with or without diagnostic ECG. CONCLUSION: Spontaneous phenotypic manifestation of BS was more frequent in older symptomatic patients, absent in children, and related with low BMI. ECG manifestations were intermittent in more than 3/4 of the affected patients. Fluctuations between diagnostic and nondiagnostic ECGs may have an implication on the correct phenotyping in family screening so several ECGs with drug challenging are mandatory.
Assuntos
Síndrome de Brugada/diagnóstico , Eletrocardiografia/métodos , Adolescente , Adulto , Distribuição por Idade , Índice de Massa Corporal , Síndrome de Brugada/complicações , Síndrome de Brugada/genética , Família , Feminino , Seguimentos , Predisposição Genética para Doença/genética , Humanos , Masculino , Razão de Chances , Portugal , Estudos Prospectivos , Distribuição por Sexo , Síncope/etiologia , Adulto JovemRESUMO
The authors present a family with Brugada syndrome, the largest ever described in Portugal. From a fortuitous electrocardiographic finding in a previously symptomatic young man with a family history of sudden death, 126 possibly affected family members were studied. This article describes the diagnostic approach, risk stratification for sudden death and therapeutic interventions offered to this family, and presents a brief review of Brugada syndrome.
