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[A clinical case of reverse left ventricular remodeling in patient with pathogenic TTN mutation. Case report].

Authors :
Nasonova SN
Meshkov AN
Zhirov IV
Osmolovskaya YF
Shoshina AA
Gagloev AV
Dzhumaniiazova IH
Zelenova EA
Erema VV
Gusakova MS
Ivanov MV
Terekhov MV
Kashtanova DA
Nekrasova AI
Mitrofanov SI
Shingaliev AS
Yudin VS
Keskinov AA
Gomyranova NV
Chubykina UV
Ezhov MV
Tereshchenko SN
Yudin SM
Boytsov SA
Source :
Terapevticheskii arkhiv [Ter Arkh] 2024 Oct 10; Vol. 96 (9), pp. 901-908. Date of Electronic Publication: 2024 Oct 10.
Publication Year :
2024

Abstract

Dilated cardiomyopathy (DCM) is a leading cause of heart failure, sudden cardiac death, and heart transplantation in young patients. The causes of DCM are varied and include genetic factors and metabolic, infectious, toxic and others factors. Today it is known that germline mutations in more than 98 genes can be associated with the occurrence of DCM. However, the penetrance of these genes often depends on a combination of factors, including modifiable ones, i.e. those that change under the influence of the environment. About 20-25% of genetically determined forms of DCM are due to mutations in the titin gene ( TTN ). Titin is the largest protein in the body, which is an important component of the sarcomer. Although titin is the largest protein in the human body, its role in the physiology of heart and disease is not yet fully understood. However, a mutation in the TTN gene may later represent a potential therapeutic target for genetic and acquired cardiomyopathy. Thus, the analysis of clinical cases of cardiomyopathy in patients with identified mutations in the TTN gene is of great scientific interest. The article presents a clinical case of manifestation of DCM in patient with a revealed pathogenic variant of mutation in the gene TTN and reverse left ventricular remodeling of the against the background of optimal therapy of heart failure in a subsequent outpatient observation.

Details

Language :
Russian
ISSN :
0040-3660
Volume :
96
Issue :
9
Database :
MEDLINE
Journal :
Terapevticheskii arkhiv
Publication Type :
Academic Journal
Accession number :
39467245
Full Text :
https://doi.org/10.26442/00403660.2024.09.202852