Searching for genetic modulators of the phenotypic heterogeneity in Brugada syndrome.

ABSTRACT: In Brugada syndrome, even within the same family where all affected individuals share the same mutation, phenotypic variation is prominent, with variable penetrance and expressivity, presenting different degrees of involvement. It is difficult to establish a direct correlation between genotype and phenotype to predict prognosis in complications and risk of sudden death. The factors that modulate this inter- and intra-familial phenotypic variability remain to be determined. With the intention of testing whether other genetic factors, in addition to the causal mutation in SCN5A, may have a modulating effect on the Brugada phenotype and the risk of sudden death, we have studied 8 families with a causal variant in SCN5A with at least two affected individuals, one of whom has suffered cardiac a

SUBMITTER: Martinez-Campelo L 

PROVIDER: S-EPMC8887717 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature