Cardiomyopathy associated with the Ala143Thr variant of the α-galactosidase A gene

Objective To investigate whether the Ala143Thr variant of the α-galactosidase A gene (A143T/ GLA ), with conflicting interpretations of pathogenicity, is associated with Fabry cardiomyopathy. Methods The index patient, a woman in her 60s with cardiomyopathy, was screened for variants in 59 cardiomyopathy-related genes. A143T/ GLA , the only rare variant found, was screened in 10 relatives. GLA activity and lyso-Gb3 levels were measured and...