Brugada syndrome (BrS) is a rare, inherited arrhythmia with high risk of sudden cardiac
death. To evaluate the molecular convergence of clinically relevant mutations and to identify …

Background: Cardiomyopathies (CMs) represent a heterogeneous group of primary
myocardial diseases characterized by structural and functional abnormalities. They …

Implementing this knowledge into genetic testing of SCD decedents will improve its
diagnostic yield by identifying a subset of patients who do not carry a variant in one of the …

Brugada pattern during routine ECG before elective surgery. The ECG was recorded at
standard and highlead position (Figure, 1A). He reported previous episodes of syncope with …

Background KCNE1 loss-of-function variants cause type 5 long QT syndrome (LQT5).
However, most alleged LQT5-causative KCNE1 variants were identified before the true rate …

Гипертрофическая кардиомиопатия (ГКМП)-самая распространенная наследственная
патология сердца с высокой клинической гетерогенностью. У каждого пятого больного …

Loss-of-function variants of SCN5A, encoding the sodium channel alpha subunit Nav1. 5 are
associated with high phenotypic variability and multiple cardiac presentations, while …

Phenotypicheterogeneity is a phenomenon in which distinct phenotypes can develop in
individuals bearing pathogenic variants in the same gene. Genetic factors, gene …

Гипертрофическая кардиомиопатия (ГКМП)–самая распространенная генетически
детерминированная патология сердца, часто сопровождающаяся фатальными …

Inherited cardiomyopathies (CMPs) are fairly common causes of morbidity and mortality,
particularly, in young individuals. In substantial number of cases, only morphological …