Authors
Kolyubaeva S.N., Kachnov V.A., Tyrenko V.V., Chirsky V.S., Protasov O.V., Onishchenko L.S., Buntovskaya A.S., Myakoshina L.A., Ermilova I.V., Eliseeva M.I.
FGBVOU VO «Military Medical Academy named after S. M. Kirov» of the Ministry of defence of the Russian Federation, Saint-Petersburg
Abstract
The work examined the material of the heart muscle, taken during autopsy in persons who died of sudden cardiac death. Molecular genetic studies identified gomozigots on the genes PAI serping -1 675 (5G/4G) and AGTR2 (1675 G’A), containing alleles of the risk of cardiovascular disease. The identified changes in the polymorphisms of the MTHFR, MTR and MTRR genes enhance the action of the PAI and AGTR2 genes. At the light level of the study myocardium of patients who died by the type of sudden cardiac death, characterized by changes on the part of cardiomyocytes (fragmentation, dissociation, twisting, thinning, discomplexization), and vessels and stroma. In 3 cases (10%) they were minimal and were represented by focal mild fragmentation and twisting of muscle fibers, in the remaining 27 (90%) — had a fairly pronounced character, represented by varying degrees of severity of changes in cardiomyocytes, blood vessels and stroma. In the electro-microscopic examination of the material from these patients, there were signs of changes in the tissue of the heart muscle, not contradicting the morphological data obtained at the light level of the study. Comparison of the results of molecular-genetic and morphological studies does not contradict the pathological-anatomical diagnosis of death from sudden cardiac death.
Keywords: gene polymorphisms, sudden cardiac death, heart muscle, cardiomyocytes, myolysis.
References
1. Vnezapnaja serdechnaja smert’. Ed by Shljahto EV, Arutjunova GP, Belenkova JuN, Ardasheva AV. Moscow: Medpraktika-M; 2017.
2. Shljahto EV, Arutjunov GP, Belenkov JuN, et al. Nacional’nye rekomendacii po opredeleniju riska i profilaktike vnezapnoj serdechnoj smerti. Moscow: Medpraktika-M; 2018. 247 p.
3. Kachnov VA, Tyrenko VV, Kolubaeva SN, et al. Genetic typing of diseases of ion channels in the prevention of sudden cardiac death. Bulletin of National medical and surgical center. 2018;13(1):147–151.
4. Kolubaeva SN. Genetic reasons of sudden cardiac death. Izvestija rossijskoj voenno-medicinskoj akademii. 2017;2:15–21.
5. Fernandes-Falgueras A, Sarquella-Brugada G, Brugada J, et al. Cardiac channelopaties and sudden death: recent clinical and genetic advances. Biology (Basel). 2017;6(1):7. Doi: 10.3390/biology6010007.
6. Guidi B, Aquaro GD, Gesi M, et al. Postmortem cardiac magnetic resonance in sudden cardiac death. Heart Fail Rev. 2018;23(5):651–665. Doi: 10.1007/s10741-018-9705-0.
7. Michaud K, Genet P, Sabatasso S, et al. Postmortem imaging as a complementary tool for the investigation of cardiac death. Forensic Sci. Res. 2019;4(3):211–222. Doi: 10.1080/20961790.2019.1630944.
8. Kaplinger J, Landstrom AP, Salisbury B, et al. Distinguishing arrhytmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. J. Am. Coll. Cardiol. 2011;57(23):2317–27. Doi: 10.1016/j.jacc.2010.12.036.
9. Brede M, Roell W, Ritter O, et al. Cardiac hypertrophy is associated with decreased eNOS expression in angiotensin AT2 receptor-deficient mice. Hypertension. 2003;42(6):1177–1182. Doi: 10.1161/01.HYP.0000100445.80029.8E.
10. Carrillo-Sepúlveda MA, Ceravolo GS, Furstenau CR, et al. Emerging role of angiotensin type 2 receptor (AT2R)/Akt/NO pathway in vascular smooth muscle cell in the hyperthyroidism. PLoS One. 2013;8(4):1982. Doi: 10.1371/journal.pone.0061982. Print 2013.
11. Chen YY, Wang BN, Yu XP. Correlation between the 677C>T polymorphism in the methylene tetrahydrofolate reductase gene and serum homocysteine levels in coronary heart disease. Genet. Mol. Res. 2016;15(1). Doi: 10.4238/gmr.15017238.
12. Iqbal MP, Iqbal K, Tareen AK, et al. Polymorphisms in MTHFR, MS and CBS genes and premature acute myocardial infarction in a Pakistani population. Pak. J. Pharm. Sci. 2016;29(6):1901–1906.
13. Ponomarenko IV, Sukmanova IA. Thrombosis risk factors and gene mutations in young age patients with acute coronary syndrome. Kardiologiya. 2019;59(15),19–24. Doi: 10.18087/cardio.2602.
14. Cyplenkova VG, Illarionova NG. Gisto-ul’trastrukturnaja harakteristika miokarda hronicheskih alkogolikov i bol’nyh dilatacionnoj kardiomiopatiej alkogol’nogo geneza. Mezhdunarodnyj zhurnal prikladnyh i fundamental’nyh issledovanij. 2010;(12):62–63.
15. Smirnov VP, Panysheva IA. Patomorfologija kardiomocitov pri vnezapnoj kardial’noj smerti. (Conference proceedigs). III mezhdunarodnaja nauchnaja konferencija «Medicina: vyzovy segodnjashnego dnja». Moscow: Buki-Vedi; 2016. pp 43–46.
16. Volkov VP. The morphology of the myocardium in sudden cardiac death in patients with ischemic cardiomyopathy. Innovacii v nauke. 2017;(7):28–31.
17. Kakturskij LV, Rybakova MG, Kuznecova IA. Vnezapnaja serdechnaja smert’ (morfologicheskaja diagnostika). Saint Petersburg: GPAB; 2008. 80 p.
18. Reznik AG. The comparative analysis of cardiac contractility associated with certain causes of death. Sudebno-medicinskaja jekspertiza. 2013;4:46–50.
19. Shperling ID. Razmernaja harakteristika sarkomerov miokarda i vozmozhnost’ ee ispol’zovanija v gistologicheskoj diagnostike ostrogo infarkta miokarda. Arhiv patologii. 1981;(1):24–29.
20. Egorova IF, Penyaeva EV, Bockeria LA. Altered Z-disks of myofibrils in the cardiomyocytes from patients with Ebstein’s anomaly. Arhiv patologii. 2015;(6):3–8. Doi: 10.17116/patol20157763-8.
