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Pathogenic Variant Rs1471414348of the TTN Gene in the Patient with Familial Left Venticular Noncompaction Cardiomyopathy

https://doi.org/10.20996/1819-6446-2019-15-4-524-529

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Abstract

The clinical, instrumental and molecular-genetic studies for proband and family members for identification of family form of left ventricular noncompaction cardiomyopathy (LVNC) presented in the article. According to the results of the examination, the diagnosis LVNC was made. Drug therapy was adjusted, and a cardioverter defibrillator was implanted for the primary prevention of sudden cardiac death. Given the hereditary nature of the disease, family screening was conducted. By the family screening the disease was diagnosed in the mother of proband. Later, was made exome sequencing in a group of genes related to the development of left ventricular noncompaction cardiomyopathy. One likely pathogenic variant (rs1471414348, stop codon) in the TTN gene was detected. The discovered variant was validated by Sanger sequencing and was detected only in the proband and his mother, and was absent in other relatives. There were no other pathogenic and probably pathogenic variants in genes associated with the development of left ventricular noncompaction and other cardiomyopathies. As a result of family screening the new cases were diagnosed, the pathogenic variant of the TTN gene was identified, that is probably responsible for the development of the LVNC phenotype.

About the Authors

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

Olga V. Kulikova – MD, Junior Researcher, Department of Clinical Cardiology and Molecular Genetics

Petroverigsky per. 10, Moscow, 101990 Russia



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

Alexey N. Meshkov – MD, PhD, Head of laboratory of molecular genetics

Petroverigsky per. 10, Moscow, 101990 Russia



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

Roman P. Myasnikov – MD, PhD, Senior Researcher, Department of Clinical Cardiology and Molecular Genetics

Petroverigsky per. 10, Moscow, 101990 Russia



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

Anna V. Kiseleva – PhD (Biology), Senior Researcher, Laboratory of Molecular Genetics

Petroverigsky per. 10, Moscow, 101990 Russia



S. N. Koretsky
National Medical Research Center for Preventive Medicine
Russian Federation

Sergey N. Koretskiy – MD, PhD, Senior Researcher, Department of Fundamental and Applied Aspects of Obesity

Petroverigsky per. 10, Moscow, 101990 Russia



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

Anastasia A. Zharikova – Junior Researcher, Laboratory of molecular genetics

Petroverigsky per. 10, Moscow, 101990 Russia



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

Maria S. Kharlap – MD, PhD, Senior Researcher, Department of Arrhythmias and Cardiac Conduction Disorders

Petroverigsky per. 10, Moscow, 101990 Russia



E. A. Mershina
Lomonosov Moscow State University
Russian Federation

Elena A. Mershina – MD, PhD, Head of Radiology Department, Leading Researcher, Medical Research and Education Center

Leninskie Gory ul. 1, Moscow, 119991 Russia



V. E. Sinitsyn
Lomonosov Moscow State University
Russian Federation

Valentin E. Sinitsyn – MD, PhD, Professor, Medical Research and Education Center

Leninskie Gory ul. 1, Moscow, 119991 Russia



O. P. Skirko
National Medical Research Center for Preventive Medicine
Russian Federation

Olga P. Skirko – Junior Researcher, Laboratory of molecular genetics

Petroverigsky per. 10, Moscow, 101990 Russia



I. A. Efimova
National Medical Research Center for Preventive Medicine
Russian Federation

Irina A. Efimova – Laboratorian, Biobank

Petroverigsky per. 10, Moscow, 101990 Russia



M. S. Pokrovskaya
National Medical Research Center for Preventive Medicine
Russian Federation

Mariya S. Pokrovskaya – PhD (Biology), Head of Laboratory of Molecular Genetics

Petroverigsky per. 10, Moscow, 101990 Russia



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

Sergey A. Boytsov – MD, PhD, Professor, Corresponding Member of the Russian Academy of Sciences, Director

Tretya Cherepkovskaya ul. 15a, Moscow, 121552 



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

Oxana M. Drapkina – MD, PhD, Professor, Corresponding Member of the Russian Academy of Sciences, Director

Petroverigsky per. 10, Moscow, 101990 Russia



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For citation:


Kulikova O.V., Meshkov A.N., Myasnikov R.P., Kiseleva A.V., Koretsky S.N., Zharikova A.A., Kharlap M.S., Mershina E.A., Sinitsyn V.E., Skirko O.P., Efimova I.A., Pokrovskaya M.S., Boytsov S.A., Drapkina O.M. Pathogenic Variant Rs1471414348of the TTN Gene in the Patient with Familial Left Venticular Noncompaction Cardiomyopathy. Rational Pharmacotherapy in Cardiology. 2019;15(4):524-529. (In Russ.) https://doi.org/10.20996/1819-6446-2019-15-4-524-529

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