| Autor: |
Nasonova SN; Chazov National Medical Research Center of Cardiology., Meshkov AN; Chazov National Medical Research Center of Cardiology.; National Research Center for Therapy and Preventive Medicine., Zhirov IV; Chazov National Medical Research Center of Cardiology., Osmolovskaya YF; Chazov National Medical Research Center of Cardiology., Shoshina AA; Chazov National Medical Research Center of Cardiology., Gagloev AV; Chazov National Medical Research Center of Cardiology., Dzhumaniiazova IH; Centre for Strategic Planning and Management of Biomedical Health Risks., Zelenova EA; Centre for Strategic Planning and Management of Biomedical Health Risks., Erema VV; Centre for Strategic Planning and Management of Biomedical Health Risks., Gusakova MS; Centre for Strategic Planning and Management of Biomedical Health Risks., Ivanov MV; Centre for Strategic Planning and Management of Biomedical Health Risks., Terekhov MV; Centre for Strategic Planning and Management of Biomedical Health Risks., Kashtanova DA; Centre for Strategic Planning and Management of Biomedical Health Risks., Nekrasova AI; Centre for Strategic Planning and Management of Biomedical Health Risks., Mitrofanov SI; Centre for Strategic Planning and Management of Biomedical Health Risks., Shingaliev AS; Centre for Strategic Planning and Management of Biomedical Health Risks., Yudin VS; Centre for Strategic Planning and Management of Biomedical Health Risks., Keskinov AA; Centre for Strategic Planning and Management of Biomedical Health Risks., Gomyranova NV; Chazov National Medical Research Center of Cardiology., Chubykina UV; Chazov National Medical Research Center of Cardiology., Ezhov MV; Chazov National Medical Research Center of Cardiology., Tereshchenko SN; Chazov National Medical Research Center of Cardiology., Yudin SM; Centre for Strategic Planning and Management of Biomedical Health Risks., Boytsov SA; Chazov National Medical Research Center of Cardiology. |
| Jazyk: |
ruština |
| Zdroj: |
Terapevticheskii arkhiv [Ter Arkh] 2024 Oct 10; Vol. 96 (9), pp. 901-908. Date of Electronic Publication: 2024 Oct 10. |
| DOI: |
10.26442/00403660.2024.09.202852 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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