Phenotypic variability and modifier variants in children with hereditary heart diseases

• Main Authors: N. V. Shcherbakova, A. B. Zhironkina, V. Yu. Voinova, R. A. Ildarova, M. A. Shkolnikova
• Format: Article
• Language: Russian
• Published: Ltd. “The National Academy of Pediatric Science and Innovation” 2021-07-01
• Series: Rossijskij Vestnik Perinatologii i Pediatrii
• Subjects: children; hereditary diseases; cardiology; phenotypic variability; incomplete penetrance; modifier variants; genetic risk scales
• Online Access: https://www.ped-perinatology.ru/jour/article/view/1400

Despite the recent achievements in searching for the causes of monogenic human diseases, there is still a massive gap in understanding the molecular causes of phenotypic variability. At the moment, it is evident that the pathogenic genetic variant often acts together with the other genetic and non-genetic factors that can reduce or, on the contrary, aggravate the severity of the disease. Thus, to completely understand the disease, we shall consider the entire set of mechanisms leading to the resulting phenotype. This paper reviews the current state of the art in identifying genetic and non-genetic phenotype modifiers for rare monogenic cardiovascular diseases.