Familial Dilated Cardiomyopathy Caused by a Novel Frameshift in the BAG3 Gene.
Rocio ToroAlexandra Pérez-SerraÒscar CampuzanoJavier Moncayo-ArlandiCatarina AllegueAnna IglesiasAlipio MangasRamon BrugadaPublished in: PloS one (2016)
We report p.H243Tfr*64_BAG3 as a novel pathogenic variation responsible for familial dilated cardiomyopathy. This variation correlates with a more severe phenotype of the disease, mainly in younger individuals. Genetic analysis in families, even asymptomatic individuals, enables early identification of individuals at risk and allows implementation of preventive measures.