Опубликовать статью

Информационное партнерство

Инфоресурсы

Контакты

«

Vol. 23, Art. 19 (pp. 298-311)    |    2022       

»

Change in the phenotype of cardiomyopathy against the background of myocarditis

Makarov I.A., Borodin K.O., Makarova T.A., Mitrofanova L.B.

Federal State Budgetary Institution V.A. Almazov National Medical Research Center of the Ministry of Health of the Russian Federation

Brief summary

The prevalence of carriers of various genes for hypertrophic cardiomyopathy can be estimated as 1 case per 200 people, however, not all patients develop clinical signs of the disease. We present a clinical case of a young man (20 years old) with the debut of the disease in the form of restrictive cardiomyopathy, the cause of which was postmyocardial cardiosclerosis against the background of primary hypertrophic cardiomyopathy. The patient underwent heart transplantation due to end-stage chronic heart failure, and a large differential diagnostic search was also carried out to determine the cause of cardiomyopathy and the etiology of lymphocytic myocarditis.


Key words

restrictive and hypertrophic cardiomyopathy, desminopathy, myocarditis, heart transplantation

Reference list

1. Muchtar E., Blauwet L. A., Gertz M. A. Restrictive cardiomyopathy: genetics, pathogenesis, clinical manifestations, diagnosis, and therapy. Circulation research. 2017;121(7):819-837. doi: 10.1161/CIRCRESAHA.117.310982


2. Shams P., Ahmed I. Cardiac amyloidosis StatPearls [Internet]. - StatPearls Publishing, 2022.


3. Kobayashi E. S., Waldman B., Engorn B. M. et al. Cost efficacy of rapid whole genome sequencing in the pediatric intensive care unit. Frontiers in pediatrics. 2021;9. doi: 10.3389/fped.2021.809536


4. Vaihanskaya T.G., Koptuh, T.M., Kyryshko, T.V. i dr. Restriktivnaya kardiomiopatiya-slojnii pyt k diagnozy desminopatii. Rossiiskii kardiologicheskii jyrnal. 2019;10:100-108. doi: 10.15829/1560-4071-2019-10-100-108


5. Gydkova A.Ya., Shlyahto, E.V., Ribakova, M.G. i dr. Sposob diagnostiki idiopaticheskoi restriktivnoi kardiomiopatii. 2004;55c.


6. Chow L. H., Radio S. J., Sears T.D. et al. Insensitivity of right ventricular endomyocardial biopsy in the diagnosis of myocarditis. Journal of the American College of Cardiology. 1989;14( 4):915-920. doi: 10.1016/0735-1097(89)90465-8


7. Dec G. W., Fallon J. T., Southern J.F. et al. Borderline myocarditis: an indication for repeat endomyocardial biopsy. Journal of the American College of Cardiology.1990;15(2):283-289. doi: 10.1016/s0735-1097(10)80050-6.


8. Semsarian C., Ingles J., Maron M. S. et al. New perspectives on the prevalence of hypertrophic cardiomyopathy. Journal of the American College of Cardiology.2015;65(12):1249-1254. doi: 10.1016/j.jacc.2015.01.019.


9. Huang Y., Xing Y., Li H. Heterozygous desmin gene (DES) mutation contributes to familial dilated cardiomyopathy. Journal of International Medical Research. 2021;49(4):03000605211006598. doi: 10.1177/03000605211006598.


10. Brodehl A., Gaertner-Rommel A., Milting H. Molecular insights into cardiomyopathies associated with desmin (DES) mutations. Biophysical reviews. 2018;10(4):983-1006. doi: 10.1007/s12551-018-0429-0.


11. Bergman J. E. H., Veenstra-Knol H. E., van Essen, A. J. et al. Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene. European journal of medical genetics. 2007;50(5):355-366. doi.org/10.1016/j.ejmg.2007.06.003


12. Mitrofanova L.B. Myltidisciplinarnii podhod k probleme vnezapnoi smerti. Vzglyad morfologa. Klin. i eksperiment. hir. Jyrnal im. akad. B.V. Petrovskogo. 2018;6(3):16-24. doi: 10.24411/2308-1198-2018-13002.


13. Brodehl A., Pour Hakimi S. A., Stanasiuk C. et al. Restrictive cardiomyopathy is caused by a novel homozygous desmin (DES) mutation p. Y122H leading to a severe filament assembly defect. Genes. 2019;10(11):918-927. doi.org/10.3390/genes10110918


14. Brunet-Garcia L., Roses-Noguer F., Betrián P. et al. Restrictive cardiomyopathy: Importance of early diagnosis, An Pediatr (Engl Ed). 2021;95(5):368-370. doi: 10.1016/j.anpede.2020.11.007.

Журнал основан 16 ноября 2000г.
Выдано Министерством РФ по делам печати, телерадиовещания и средств массовых коммуникаций

(c) Перепечатка материалов сайта Medline.Ru возможна только с письменного разрешения редакции