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3 . 2020

The manifestation of genetic-related cardiomyopathy after myocarditis (a clinical case)

Abstract

Here we present a clinical case of manifestation of dilated cardiomyopathy (DCM) as an outcome of myocarditis, from debut to final diagnosis. It demonstrates the variety of clinical symptoms and difficulties of differential diagnosis between myocarditis and dilated cardiomyopathy. Identification of genetic mutation p.Glu410Lys in the DES gene allowed us to confirm primary origin of cardiomyopathy and to perform genetic counseling for family members. Personal approach and genetic testing in patients with primary cardiac disorders provide an important tool to develop preventive measures for improving long-term prognosis and to minimize cardiovascular risk.

Keywords:myocarditis, dilated cardiomyopathy, DCM, DES, genetic counseling, genetics, troponin I

Funding. The genetic study was carried out with the support of the Russian Science Foundation grant 16-15-10421.
Conflict of interests. The authors declare no conflict of interests.
For citation: Zamaraeva D.V., Trunina I.I., Kotlukova N.P., Sharykin A.S., Shestak A.G., Zaklyazminskaya E.V., Telezhni-kova N.D., Karelina E.V. The manifestation of genetic-related cardiomyopathy after myocarditis (a clinical case). Clinical and Experimental Surgery. Petrovsky Journal. 2020; 8 (3): 110-8. DOI: https://doi.org/10.33029/2308-1198-2020-8-3-110-118 (in Russian)

References

1. Federal clinical guidelines for providing medical care to children with myocarditis. Moscow: Soyuz pediatrov Rossii, Assotsiatsiya detskikh kardiologov Rossii, 2015. (in Russian)

2. Pettit M.A., Koyfman A., Foran M. Myocarditis. Pediatr Emerg Care. 2014; 30 (11): 832–5; quiz 836–8.

3. Suthar D., Dodd D.A., Godown J. Identifying noninvasive tools to distinguish acute myocarditis from dilated cardiomyopathy in children. Pediatr Cardiol. 2018; 39 (6): 1134–8.

4. Zaklyazminskaya E.V., Bukaeva A.A., Shestak A.G., Polyak M.E., Blagova O.V., Mershina E.A., et al. Dilated cardiomyopathy: a variety of genetic causes and a strategy for DNA diagnostics. Klinicheskaya i eksperimental’naya khirurgiya [Clinical and Experimental Surgery]. 2019; 7 (3): 44–53. (in Russian)

5. Brown E.E., McMilllan K.N., Halushka M.K., Ravekes W.J., Knight M., Crosson J.E., et al. Genetic aetiologies should be considered in paediatric cases of acute heart failure presumed to be myocarditis. Cardiol Young. 2019; 29 (7): 917–21.

6. Belkaya S., Kontorovich A.R., Byun M., Mulero-Navarro S., Bajolle F., Cobat A., et al. Autosomal recessive   cardiomyopathy presenting as acute myocarditis. J Am Coll Cardiol. 2017; 69 (13): 1653–65.

7.    Bondue A., Arbustini E., Bianco A., et al. Complex roads from genotype to phenotype in dilated cardiomyopathy: scientific update from the Working Group of Myocardial Function of the European Society of Cardiology. Cardiovasc Res. 2018; 114 (10): 1287-303. DOI: https://doi.org/10.1093/cvr/cvy122

8.    Zaklyazminskaya E., Mikhailov V., Bukaeva A., et al. Low mutation rate in the TTN gene in paediatric patients with dilated cardiomyopathy - a pilot study. Sci Rep. 2019; 9 (1): 16409. DOI: https://doi.org/10.1038/s41598-019-52911-1

9.    Kochergin-Nikitskiy K.S., Zaklyaz’minskaya E.V., Lavrov A.V., Smirnikhina S.A. Cardiomyopathies associated with desmin gene mutations: molecular pathogenesis and gene therapy approaches. Al’manakh klinicheskoy meditsiny [Almanac of Clinical Medicine]. 2019; 47 (7): 603-13. (in Russian)

10.    Alieva I.B., Uzbekov R.E. The cytoskeleton — a modern view of the architecture of the cells. Priroda [Nature]. 2012; (10): 16-23. (in Russian)

11.    Goldfarb L.G., Dalakas M.C. Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease [published correction appears in J. Clin. Invest. 2011. Vol. 121, N 1. P 455]. J Clin Invest. 2009; 119 (7): 1806-13. DOI: https://doi.org/10.1172/JCI38027

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CHIEF EDITOR
CHIEF EDITOR
Sergey L. Dzemeshkevich
MD, Professor (Moscow, Russia)

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