Spectrum of mutations and their phenotypic manifestations in children and adults with long QT syndrome

Spectrum of mutations and their phenotypic manifestations in children and adults with long QT syndrome

Aim. To determine the spectrum of mutations in the genes responsible for the long QT syndrome (LQTS) and study their phenotypic manifestations in patients with LQTS in different age groups.Materials and methods. The study included 35 unrelated probands with a clinical diagnosis of LQTS: 23 adults (8...

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Main Authors: N. N. Chakova, S. M. Komissarova, E. A. Zasim, T. V. Dolmatovich, E. S. Rebeko, S. S. Niyazova, E. V. Zaklyazminskaya, L. I. Plashchinskaya, M. V. Dudko
Format: Article
Language:Russian
Published: «FIRMA «SILICEA» LLC 2021-11-01
Series:Российский кардиологический журнал
Subjects:
long qt interval syndrome
spectrum of mutations
kcnq1 gene
kcnh2 gene
scn5a gene
cacna1c gene
ank2 gene
risk stratification
Online Access:https://russjcardiol.elpub.ru/jour/article/view/4704
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