Russian Federation
Russian Federation
Russian Federation
The paper presents a literature review on the arrhythmogenic dysplasia of the right ventricle – a family disease with variable clinical manifestations up to the sudden cardiac death. For the time being screening of all the known genes allows to detect mutations only in 60–65% patients with arrhythmogenic dysplasia of the right ventricle. Domestic and foreign literature on this issue has been studied. Specific features of pathogenesis and clinical presentation of this category of patients are described, genotypespecific approach to the study of the disease is considered
arrhythmogenic dysplasia of the right ventricle, sudden cardiac death, ventricular tachycardia
1. Lutohina Yu.A. Aritmogennaya displaziya pravogo zheludochka: klinicheskie formy bolezni, znachenie soputstvuyuschego miokardita, podhody k lecheniyu / dis. ... kand. med. nauk: 14.01.05. – Moskva. – 2019 − 226 s.
2. Blagova O.V., Nedostup A.V., Morozova N.S. i dr. Aritmogennaya displaziya pravogo zheludochka: polimorfizm klinicheskih proyavleniy // Kardiologiya. – 2012 − № 4 − S. 85–94.
3. Fontaine G., Guiraudon G., Frank R. et al. Stimulation studies and epicardial mapping in ventricular tachycardia: study of mechanisms and selection for surgery // In: Kulbertus H.E., Ed., Reentrant Arrhythmias, MTP Pub, Lancaster. – 1977 – R. 334–350.
4. Thiene G., Nava A., Corrado D. et al. Right ventricular cardiomyopathy and sudden death in young people // N. Engl. J. Med. – 1988 – T. 318 − № 3 – R. 129–133.
5. Lombardi R., Marian A.J. Arrhythmogenic cardiomyopathy of the right ventricle is a disease of cardiac stem cells // Curr. Opin. Cardiol. – 2010 – T. 25 − № 3 – R. 222–8.
6. Bhuiyan Z.A., Jongbloed J.D.H., van der Smagt J. et al. Desmoglein-2 and desmocollin-2 mutations in Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy patients: results from a multicenter study // Circ. Cardiovasc. Genet. – 2009 – T. 2 – R. 418–27.
7. Rampazzo A., Nava A., Danieli G.A. et al. The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24 // Hum. Mol. Genet. – 1994 – T. 3 – R. 959–962
8. Beffagna G., Occhi G., Nava A. et al. Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1 // Cardiovasc Res. – 2005 – T. 65 – R. 366–373.
9. Antoniades L., Tsatsopoulou A., Anastasakis A. et al. Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis // Eur. Heart J. – 2006 – T. 27 − № 18 – R. 2208–16.
10. Jacob K.A., Noorman M., Cox M.G. et al. Geographical distribution of plakophilin-2 mutation prevalence in patients with arrhythmogenic cardiomyopathy // Neth. Heart J. – 2012 – T. 20 − № 5 – R. 234–9.
11. Norgett E.E., Lucke T.W., Bowers B. et al. Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin // J. Invest Dermatol. – 2006 – T. 126 – R. 1651–1654.
12. Syrris P., Ward D., Asimaki A. et al. Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy // Circulation. – 2006 – T. 113 – R. 356 –364.
13. Bhonsale A., Groeneweg J., James C. et al. Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers // Eur. Heart J. – 2015 – T. 36 − № 14 – R. 847–55.
14. Gordeeva M.V., Mitrofanova L.B., Veleslavova O.E. Aritmogennaya kardiomiopatiya/displaziya pravogo zheludochka, podhody k diagnostike. Soobschenie II // Vestnik Sankt-Peterburgskogo universiteta. Seriya II. Medicina. – 2014 – Vyp. 1 – S. 43–54.
15. Shestak A.G., Blagova O.V., Lutohina Yu.A. i dr. Opyt prakticheskogo ispol'zovaniya DNK-diagnostiki pri aritmogennoy kardiomiopatii pravogo zheludochka // Rossiyskiy kardiologicheskiy zhurnal. − 2016 − № 10 − S. 21–27.
16. Saguner A.M., Brunckhorst C., Duru F. Arrhythmogenic ventricular cardiomyopathy: A paradigm shift from right to biven-tricular disease // World J. Cardiol. – 2014 – T. 6 − № 4 – R. 154–74.
17. Ruperto C., Minà C., Brun F. et al. Arrhythmogenic cardiomyopathy with biventricular involvement and noncompaction // J. Cardiovasc. Med. – 2016 – T. 17 − Suppl 2 – R. 244–246.
18. MacCarrick G., Black J.H., Bowdin S. et al. Loeys-Dietz syndrome: a primer for diagnosis and management // Genet Med. – 2014 – T. 16 − № 8 – R. 576–587.
19. Bertoli-Avella A.M., Gillis E., Morisaki H. et al. Mutations in a TGF-beta ligand, TGFB3, cause syndromic aortic aneurysms and dissections // J. Am. Coll. Cardiol. – 2015 – T. 65 − № 13 – R. 1324–1336.
20. Murray B., James K.A. Genetic and phenotypic correlations in arrhythmogenic cardiomyopathies // Curr. Cardiol. Rep. – 2022 – T. 24 − № 11 – R. 1557–1565.
21. Groeneweg J.A., Bhonsale A., James C.A. Clinical presentation, long-term follow-up, and outcomes of 1001 arrhythmogenic right ventricular dysplasia/cardiomyopathy patients and family members // Circ. Cardiovasc. Genet. – 2015 – T. 8 − № 3 – R. 437–46.
22. Veleslavova O.E, Gordeeva M.V., Zheleznyak I.S. i dr. Aritmogennaya kardiomiopatiya/displaziya pravogo zheludochka. Obzor literatury. Soobschenie 1 // Vestnik Sankt-Peterburgskogo universiteta. Seriya II. Medicina. – 2014 – Vyp. 1 – S. 26–42.
23. Fedyakov M.A., Veleslavova O.E., Glotov O.S. i dr. Aritmogennaya kardiomiopatiya/displaziya pravogo zheludochka: klinicheskie i molekulyarno-geneticheskie osobennosti // Vestnik aritmologii. – 2015 – T. 81 – S. 33–41.
24. Corrado D., Anastasakis A., Basso C. et al. Proposed diagnostic criteria for arrhythmogenic cardiomyopathy: European task force consensus report // Int J Cardiol. – 2024 – T. 395 – R. 131447
