Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.

Background: Fabry disease (FD) is a rare hereditary multisystem disease caused by variants of the gene. Determination of gene variants and identification of genotype-phenotype correlations allow us to explain the features of FD associated with predominant damage of one or another system, both in the classical and atypical forms of FD, as well as in cases with late manifestation and involvement of one of the systems.

Methods: The study included 293 Russian patients with pathogenic variants of the gene, which were identified as a result of various selective screening programs.

The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a Russian nationwide screening program using NGS technology.

Background: There is a vast number of screening studies described in the literature from the beginning of the twenty-first century to the present day. Many of these studies are related to the estimation of Fabry disease (FD) morbidity among patients from high-risk groups, including adult patients with hypertrophic cardiomyopathy (HCM) and left ventricular hypertrophy (LVH). These studies show diverse detection frequencies (0-12%) depending on the methodology.