Open AccessCardiac phenotype of Fabry Disease
Author(s) -
М. С. Харлап,
Р. П. Мясников,
Т. О. Павлунина,
С. А. Береговская,
N. Sonicheva,
Е. А. Мершина,
К. В. Давтян
Publication year - 2018
Publication title -
rossijskij kardiologičeskij žurnal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.141
H-Index - 14
eISSN - 2618-7620
pISSN - 1560-4071
DOI - 10.15829/1560-4071-2018-7-80-83
Subject(s) - fabry disease , enzyme replacement therapy , medicine , phenotype , disease , clinical phenotype , atrial fibrillation , differential diagnosis , genotype , cardiology , pathology , genetics , biology , gene
Clinical case demonstrates a cardiovascular phenotype of Fabry disease — rare inherited disorder, linked with female sex. Clinically manifest Fabry disease is described in female patient with paroxysmal atrial fibrillation. The specifics of differential diagnostics described, as of management, and indications for genetic diagnostics and prescription of genotype-specific enzyme replacement therapy.