• Terapevt Arkh · Oct 2024

    Case Reports

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

    • S N Nasonova, A N Meshkov, I V Zhirov, Y F Osmolovskaya, A A Shoshina, A V Gagloev, I H Dzhumaniiazova, E A Zelenova, V V Erema, M S Gusakova, M V Ivanov, M V Terekhov, D A Kashtanova, A I Nekrasova, S I Mitrofanov, A S Shingaliev, V S Yudin, A A Keskinov, N V Gomyranova, U V Chubykina, M V Ezhov, S N Tereshchenko, S M Yudin, and S A Boytsov.
    • Chazov National Medical Research Center of Cardiology.
    • Terapevt Arkh. 2024 Oct 10; 96 (9): 901908901-908.

    AbstractDilated 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.

      Pubmed     Copy Citation     Plaintext  

      Add institutional full text...

    Notes

     
    Knowledge, pearl, summary or comment to share?
    300 characters remaining
    help        
    You can also include formatting, links, images and footnotes in your notes
    • Simple formatting can be added to notes, such as *italics*, _underline_ or **bold**.
    • Superscript can be denoted by <sup>text</sup> and subscript <sub>text</sub>.
    • Numbered or bulleted lists can be created using either numbered lines 1. 2. 3., hyphens - or asterisks *.
    • Links can be included with: [my link to pubmed](http://pubmed.com)
    • Images can be included with: ![alt text](https://bestmedicaljournal.com/study_graph.jpg "Image Title Text")
    • For footnotes use [^1](This is a footnote.) inline.
    • Or use an inline reference [^1] to refer to a longer footnote elseweher in the document [^1]: This is a long footnote..

    hide…