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4 . 2022

Clinical polymorphism of hypertrophic cardiomyopathy in twins

Abstract

Hypertrophic cardiomyopathy (HCM) is the most common inherited myocardial disease caused by mutations in the genes encoding sarcomeric proteins. The vast majority of HCM cases inherits by autosomal dominant pattern with most mutations occurring in the MYH7 and MyBPC3 genes. The other modes of inheritance and other genetic forms are quite rare, and little is known about their natural course. In this article, we describe a rare familial case of autosomal recessive hypertrophic cardiomyopathy caused by homozygous p.Ala57Asp mutation in the MYL3 gene encoding the main myosin light chain. Here we discuss the differences of clinical manifestations in identical female twins, whom are homozygous carriers of this mutation, and possible source of clinical HCM polymorphism in family members with the same genetic defect.

Keywords:hypertrophic cardiomyopathy (HCM); obstructive HCM; myectomy; myosin light chains; MYL3; twin study

Funding. The genetic study was supported by grant Russian Science Foundation grant No. 22-75-00134, https://rscf.ru/project/22-75-00134/
Conflict of interest. The authors declare no conflict of interest.
For citation: Zaklyazminskaya E.V., Motreva A.P., Kalmykova O.V., Martyanova Yu.B., Sadekova M.A., Balashova M.S. Clinical polymorphism of hypertrophic cardiomyopathy in twins. Clinical and Experimental Surgery. Petrovsky Journal. 2022; 10 (4): 73–9. DOI: https://doi.org/10.33029/2308-1198-2022-10-4-73-79  (in Russian)

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CHIEF EDITOR
CHIEF EDITOR
Sergey L. Dzemeshkevich
MD, Professor (Moscow, Russia)

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