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New Variant of MYH7 Gene Nucleotide Sequence in Familial Non-Compaction Cardiomyopathy with Benign Course

https://doi.org/10.20996/1819-6446-2020-06-01

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Abstract

Left ventricular non-compaction (LVNC) is a genetically determined cardiomyopathy characterized by different variants of the clinical course. LVNC family cases allow to study in more details the role of genetic factors in cardiomyopathy pathogenesis and prognosis, as well as to determine clinical course features.

Aim. To demonstrate a case of LVNC familial form with a stable benign course and to assess the possible relationship of the detected mutation with the disease prognosis.

Material and methods. A family with LVNC was included in the study. The patient with LVNC and his 1st and 2nd degree of kinship relatives underwent clinical and instrumental examination and exome sequencing. LVNC was diagnosed in proband and proband's father. LVNC diagnosis was established basing on echo and magnetic resonance imaging (MRI) criteria.

Results. This article presents the results of a comprehensive clinical and instrumental examination of a family with LVNC with a new variant in the MYH7 gene, the absence of intramyocardial fibrosis according to MRI of the heart and a favorable disease course, both in proband's father and proband himself. A comparative analysis of the data obtained with the results of recent large-scale studies and meta-analyses devoted to the study of prognostic factors in patients with LVNC, with identified variants in the MYH7 gene.

Conclusions. The variant of p.His1338Pro identified in the MYH7 gene may be associated with the development of LVNC with a benign course.

About the Authors

R. P. Myasnikov
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation

Roman P Myasnikov - MD, PhD, Senior Researcher, Department of Clinical Cardiology and Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine.

Timiryazevskaya ul. 42, Moscow, 127550.



O. V. Kulikova
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation

Olga V. Kulikova - MD, Junior Researcher, Department of Clinical Cardiology and Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine.

Timiryazevskaya ul. 42, Moscow, 127550.



A. N. Meshkov
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation

Alexey N. Meshkov - MD, PhD, Head of Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine.

Timiryazevskaya ul. 42, Moscow, 127550.



A. V. Kiseleva
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation

Anna V. Kiseleva - PhD (Biology), Senior Researcher, Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine.

Timiryazevskaya ul. 42, Moscow, 127550.



A. O. Shumarina
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation

Anna O. Shumarina - PhD (Biology), Programmer, Laboratory of Genomic and Medical Bioinformatics, National Medical Research Center for Therapy and Preventive Medicine.

Timiryazevskaya ul. 42, Moscow, 127550.



S. N. Koretskiy
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation

Sergey N. Koretskiy - MD, PhD, Leading Researcher, Department of Fundamental and Applied Aspects of Obesity, National Medical Research Center for Therapy and Preventive Medicine.

Timiryazevskaya ul. 42, Moscow, 127550. 



A. A. Zharikova
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation

Anastasia A. Zharikova - Junior Researcher, Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine.

Timiryazevskaya ul. 42, Moscow, 127550.



M. G. Divashuk
National Medical Research Center for Therapy and Preventive Medicine; Kurchatov Genomics Center, All-Russia Research Institute of Agricultural Biotechnology
Russian Federation

Mikhail G. Divashuk - PhD (Biology), Senior Researcher, Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine; Head of Kurchatov Genomics Center, All-Russia Research Institute of Agricultural Biotechnology.

Petroverigsky per. 10, Moscow, 101990; Timiryazevskaya ul. 42, Moscow, 127550.



M. S. Kharlap
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation

Maria S. Kharlap - MD, PhD, Senior Researcher, Department of Arrhythmias and Cardiac Conduction, National Medical Research Center for Therapy and Preventive Medicine.

Timiryazevskaya ul. 42, Moscow, 127550.



S. E. Serduk
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation

Svetlana E. Serduk - MD, PhD, Senior Researcher, Department of Arrhythmias and Cardiac Conduction, National Medical Research Center for Therapy and Preventive Medicine.

Timiryazevskaya ul. 42, Moscow, 127550.



E. A. Mershina
Lomonosov Moscow State University
Russian Federation

Elena A. Mershina - MD, PhD, Head of Radiology Department, Medical Research and Education Center, Lomonosov Moscow State University.

Lomonosovsky pr. 27 Moscow, 119192.



V. E. Sinitsyn
Lomonosov Moscow State University
Russian Federation

Valentin E. Sinitsyn - MD, PhD, Professor, Medical Research and Education Center, Lomonosov Moscow State University.

Lomonosovsky pr. 27 Moscow, 119192.



S. A. Boytsov
National Medical Research Center of Cardiology
Russian Federation

Sergey A. Boytsov - MD, PhD, Professor, Academician of the Russian Academy of Sciences, Director, National Medical Research Center of Cardiology.

Tretya Cherepkovskaya ul. 15a, Moscow, 121552.



O. M. Drapkina
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation

Oxana M. Drapkina - MD, PhD, Professor, Corresponding Member of the Russian Academy of Sciences, Director, National Medical Research Center for Therapy and Preventive Medicine.

Timiryazevskaya ul. 42, Moscow, 127550.



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For citation:


Myasnikov R.P., Kulikova O.V., Meshkov A.N., Kiseleva A.V., Shumarina A.O., Koretskiy S.N., Zharikova A.A., Divashuk M.G., Kharlap M.S., Serduk S.E., Mershina E.A., Sinitsyn V.E., Boytsov S.A., Drapkina O.M. New Variant of MYH7 Gene Nucleotide Sequence in Familial Non-Compaction Cardiomyopathy with Benign Course. Rational Pharmacotherapy in Cardiology. 2020;16(3):383-391. (In Russ.) https://doi.org/10.20996/1819-6446-2020-06-01

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ISSN 1819-6446 (Print)
ISSN 2225-3653 (Online)