The clinical course of hypertrophic cardiomyopathy and the role of polymorphisms in the intronic and promoter regions of the gene alpha-galactosidase A-Reference-Cited by-同舟云学术

The clinical course of hypertrophic cardiomyopathy and the role of polymorphisms in the intronic and promoter regions of the gene alpha-galactosidase A

Published:2015-12-30 Issue:4 Volume:22 Page:61-65
ISSN:2541-8807
Container-title:The Scientific Notes of the I. P. Pavlov St. Petersburg State Medical University
language:
Short-container-title:Uč. zap. St.-Peterbg. gos. med. univ. im. Akad. I.P. Pavlova

Author:

Poliakova A. A.,Semernin E. N.,Gudkova A. Ya.

Abstract

The article reflects the importance of timely diagnosis sarcomeric and non sarcomeric hypertrophic cardiomyopathy (HCM). The results of the phenotypic and genotypic screenings aimed at identifying HCM phenocopies and, in particular Fabry disease, in the structure of left ventricular hypertrophy of unknown origin in patients of the North-West region of Russia. We analyzed the influence of polymorphisms in the intronic and promoter regions of the GLA gene on clinical course and the presence of extracardiac manifestations.

Publisher

FSBEI HE I.P. Pavlov SPbSMU MOH Russia

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