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• W2087350464 abstract "The familial prevalence of Brugada syndrome (BrS) in a consecutive series of patients was prospectively determined. BrS is genetically determined with autosomal dominant transmission. The familial prevalence of the BrS is unknown. A detailed pedigree of each family of patients with BrS was assembled and permission was obtained to invite relatives for electrocardiography and an ajmaline challenge. Sixty-two of 98 patients participated in the study and were included over a 6-year period. SCN5A genotyping was performed in 56 of these 62 patients (90%). Electrocardiograms (ECGs) of 488 relatives (mean age 38 ± 20 years, 45% men) were recorded and 270 of these relatives agreed to undergo an ajmaline challenge. Spontaneous type 1 BrS ECG was found in 4 of 488 relatives (0.8%). In the group of relatives in whom ajmaline challenge was performed (n = 270), the finding was positive in 79 subjects (29%). SCN5A genotyping identified 5 other affected relatives. As a result, the total number of affected relatives was 88. Standard 12-lead ECG was normal in 64 of the 88 affected relatives (73%). Mean percentage of affected relatives per family was 27 ± 32% (95% confidence interval 19 to 35). Familial forms of BrS were observed in 41 of the 62 families (66%) and no SCN5A mutations were found in sporadic forms. In conclusion, after active family screening affected relatives were found in almost 1/3 of subjects. BrS appeared to be a familial disease in 2/3 of subjects." @default.
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• W2087350464 date "2010-12-01" @default.
• W2087350464 modified "2023-09-25" @default.
• W2087350464 title "Prospective Evaluation of the Familial Prevalence of the Brugada Syndrome" @default.
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• W2087350464 doi "https://doi.org/10.1016/j.amjcard.2010.07.049" @default.
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