Clinical and morphological characteristics of restrictive cardiomyopathy associated with mutations in the filamin c gene
https://doi.org/10.18705/2311-4495-2018-5-3-15-22
Abstract
Previously, it was believed that mutations in filamin C are able to cause only skeletal myopathies, cardiac tissues have not been studied. However mutations in FLNC have been recently found that lead to both joint damage to the skeletal and cardiac musculature and to isolated cardiac tissue damage. Moreover, had known that mutations in FLNC are associated with all known types of cardiomyopathies (HCM, DCM, RCM, arrhythmogenic) аt present. The article presents our own clinical observations of an adult and children’s cases of isolated phylaminic RCM based on our institution. The study of this problem will allow us to include the known mutations in the genetic screening panels, which will lead to early diagnosis of cardiomyopathies associated with mutations in FLNC and the ability to prevent rapid disease progression and more later cardiac transplantation in the future.
About the Authors
O. V. Melnik
Almazov National Medical Research Centre
Russian Federation
Competing Interests:
Russian Federation
Olesya V. Melnik - PhD, Researcher of the research laboratory of surgery of congenital and hereditary pathology of the Institute of Perinatology and Pediatrics.
Akkuratova str. 2, Saint Petersburg, 197341
Competing Interests:
No conflict of interest
A. A. Knyazeva
Almazov National Medical Research Centre
Russian Federation
Competing Interests:
Russian Federation
Anastasiya A. Knyazeva - laboratory Assistant-researcher of the Cell Biology Group of the Institute of Molecular Biology and Genetics.
Akkuratova str. 2, Saint Petersburg, 197341
Competing Interests:
No conflict of interest
O. Y. Poluboyarinova
Almazov National Medical Research Centre
Russian Federation
Competing Interests:
Russian Federation
Olga Y. Poluboyarinova - clinical resident in cardiology.
Akkuratova str. 2, Saint Petersburg, 197341
Competing Interests:
No conflict of interest
Yu. A. Vakhrushev
Almazov National Medical Research Centre
Russian Federation
Competing Interests:
Russian Federation
Yurii A. Vakhrushev - assistant of the Research Laboratory of Molecular Cardiology and Genetics.
Akkuratova str. 2, Saint Petersburg, 197341
Competing Interests:
No conflict of interest
Yu. V. Fomisheva
Almazov National Medical Research Centre
Russian Federation
Competing Interests:
Russian Federation
Yulia V. Fomicheva - assistant of the Research Laboratory of Molecular Cardiology and Genetics.
Akkuratova str. 2, Saint Petersburg, 197341
Competing Interests:
No conflict of interest
M. Yu. Sitnikova
Almazov National Medical Research Centre
Russian Federation
Competing Interests:
Russian Federation
Mariya Yu. Sitnikova - MD, PhD, prof., Chief Researcher of the Research Department of Heart Failure of the Institute of the Heart and Vessels.
Akkuratova str. 2, Saint Petersburg, 197341
Competing Interests:
No conflict of interest
M. A. Simonenko
Almazov National Medical Research Centre
Russian Federation
Competing Interests:
Russian Federation
Mariya A. Simonenko - Junior Researcher of the Research Laboratory of Cardiopulmonary Testing of the Research Department of the Physiology of the Circulatory Institute of the Heart and Vessels.
Akkuratova str. 2, Saint Petersburg, 197341
Competing Interests:
No conflict of interest
T. L. Vershinina
Almazov National Medical Research Centre
Russian Federation
Competing Interests:
Russian Federation
Tatyana L. Vershinina - Head of the Department of Pediatric Cardiology and Medical Rehabilitation.
Akkuratova str. 2, Saint Petersburg, 197341
Competing Interests:
No conflict of interest
A. A. Kozyreva
Almazov National Medical Research Centre
Russian Federation
Competing Interests:
Russian Federation
Alexandra A. Kozyreva - PhD, Senior Researcher of the Research Laboratory of Molecular Cardiology and Genetics.
Akkuratova str. 2, Saint Petersburg, 197341
Competing Interests:
No conflict of interest
A. A. Polyakova
Almazov National Medical Research Centre
Russian Federation
Competing Interests:
Russian Federation
Angelica A. Polyakova - Senior Researcher of the Amyloidosis Group of the Research Department of Infiltrative Heart Disease of the Institute of Molecular Biology and Genetics.
Akkuratova str. 2, Saint Petersburg, 197341
Competing Interests:
No conflict of interest
T. S. Vasichkina
Almazov National Medical Research Centre
Russian Federation
Competing Interests:
Russian Federation
Elena S. Vasichkina - MD, PhD, Professor, the main scientific employee of the research department of cardiovascular diseases in children of the Institute of Perinatology and Pediatrics.
Akkuratova str. 2, Saint Petersburg, 197341
Competing Interests:
No conflict of interest
A. Ya. Gudkova
Almazov National Medical Research Centre; Academician I.P. Pavlov First Saint Petersburg State Medical University
Russian Federation
Competing Interests:
Russian Federation
Alexandra Ya. Gudkova - MD, PhD, Professor of the Department of Faculty Therapy of G. F. Lang, Pavlov First S-PSMU; leading researcher of the research laboratory of molecular cardiology and genetics of the Institute of Molecular Biology and Genetics, National Almazov NWMRC.
Akkuratova str. 2, Saint Petersburg, 197341
Competing Interests:
No conflict of interest
А. А. Kostareva
Almazov National Medical Research Centre
Russian Federation
Competing Interests:
Russian Federation
Anna A. Kostareva - PhD, Director of the Institute of Molecular Biology and Genetics.
Akkuratova str. 2, Saint Petersburg, 197341
Competing Interests:
No conflict of interest
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Review
For citations:
Melnik O.V., Knyazeva A.A., Poluboyarinova O.Y., Vakhrushev Yu.A., Fomisheva Yu.V., Sitnikova M.Yu., Simonenko M.A., Vershinina T.L., Kozyreva A.A., Polyakova A.A., Vasichkina T.S., Gudkova A.Ya., Kostareva А.А. Clinical and morphological characteristics of restrictive cardiomyopathy associated with mutations in the filamin c gene. Translational Medicine. 2018;5(3):15-22. (In Russ.) https://doi.org/10.18705/2311-4495-2018-5-3-15-22
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