Modern view on genetic aspects of arrhythmogenic cardiomyopathy
https://doi.org/10.18705/27823806-2023-3-2-38-45
Abstract
Arrhythmogenic cardiomyopathy (ACM) is a genetically determined disease with a high risk of sudden cardiac death (SCD). The spectrum of genetic causes of this disease is quite wide and includes mutations in both desmosomal and non-desmosomal genes. A positive result of a genetic examination is used as a diagnostic tool in patients with ACM, so its correct interpretation is one of the key factors in a personalized approach to managing a patient with this pathology. The review presents generalized modern ideas about the genetic nature of ACM.
Supporting agencies: The study was carried out with the financial support of the Ministry of Science and Higher Education of the Russian Federation (Agreement No. 075-15-2022301 dated 04/20/2022)
About the Authors
O. A. Kofeynikova
Almazov National Medical Research Centre
Russian Federation
Russian Federation
Kofeynikova Olga A., Junior Researcher, Research Institute of Unknown, Rare and Genetically Caused Diseases, World-Class Research Centre for Personalized Medicine, Pediatric Cardiologist, Department of Pediatric Cardiology and Medical Rehabilitation of Perinatology and Pediatrics of the Almazov NMRC.
Akkuratova str., 2, Saint Petersburg, 197341
D. Yu. Alekseeva
Almazov National Medical Research Centre
Russian Federation
Russian Federation
Alekseeva Darya Yu. - СM, Researcher, Research Institute of Unknown, Rare and Genetically Caused Diseases, World-Class Research Centre for Personalized Medicine.
Saint Petersburg
A. A. Kostareva
Almazov National Medical Research Centre
Russian Federation
Russian Federation
Kostareva Anna A. - MD, Director of the Institute of Molecular Biology and Genetics, Associate Professor of the Department of Internal Diseases of the Institute of Medical Education.
Saint Petersburg
E. S. Vasichkina
Almazov National Medical Research Centre
Russian Federation
Russian Federation
Vasichkina Elena S., PhD, MD, Head of the Scientific Research Centre for Unknown, Rare and Genetically Caused Diseases of the World-Class Research Centre for Personalized Medicine, Professor of the Department of Pediatric Diseases of the Medical Faculty of the Institute of Medical Education of the Almazov NMRC.
Saint Petersburg
References
1. Corrado D, Link MS, Calkins H. Arrhythmogenic right ventricular cardiomyopathy. N Engl J Med. 2017; 376:61–72.
2. Corrado D, Basso C. Arrhythmogenic left ventricular cardiomyopathy. Heart. 2021 Jul 13:heartjnl-2020-316944.
3. Cronin EM, Bogun FM, Maury P, et al. 2019 HRS/ EHRA/APHRS/LAHRS expert consensus statement on catheter ablation of ventricular arrhythmias: Executive summary. Heart Rhythm. 2020 Jan;17(1):e155–e205.
4. Marcus FI, McKenna WJ, Sherrill D, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria. European Heart Journal, 31, 806–814.
5. Corrado D, Perazzolo, Marra M, et al. Diagnosis of arrhythmogenic cardiomyopathy: the Padua criteria. Int J Cardiol. 2020; 319:106–14.
6. McKenna WJ, Thiene G, Nava A, et al. Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology. Br Heart J. 1994 Mar;71(3):215–8.
7. Protonotarios N, Tsatsopoulou A, Patsourakos P, et. al. Cardiac abnormalities in familial palmoplantar keratosis. Br Heart J. 1986 Oct;56(4):321–6.
8. Gerull B, Brodehl A. Genetic Animal Models for Arrhythmogenic Cardiomyopathy. Front. Physiol. 2020; 11:624.
9. Groeneweg JA, Bhonsale A, James CA, et. al. Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members. Circ Cardiovasc Genet. 2015 Jun;8(3):437–46.
10. James CA, Jongbloed JDH, Hershberger RE, et al. International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework. Circ Genom Precis Med. 2021 Jun;14(3):e003273.
11. Gerull B, Brodehl A. Insights Into Genetics and Pathophysiology of Arrhythmogenic Cardiomyopathy. Curr Heart Fail Rep. 2021 Dec;18(6):378–390.
12. Towbin JA, McKenna WJ, Abrams DJ, et al. 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy. Heart Rhythm. 2019 Nov;16(11):e301– e372.
13. Norgett EE, Hatsell SJ, Carvajal-Huerta L, et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum. Mol. Genet. 2000; 9, 2761–2766.
14. 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 / L. Antoniades, A. Tsatsopoulou, A. Anastasakis [et al.] // European Heart Journal. 2006. Vol. 27. Is. 18. P. 2008–2016.
15. Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy / M. Norman, N. Simpson, J. Mogensen, et al. // Circulation. 2005. Vol. 112. Is. 5. P. 636–642.
16. Cicenia M, Drago F. Arrhythmogenic Cardiomyopathy: Diagnosis, Evolution, Risk Stratification and Pediatric Population — Where Are We? // Journal of Cardiovascular Development and Disease. 2022. Vol. 9. №. 4. P. 98.
17. James CA, Jongbloed JDH, Hershberger RE, et al. International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework. Circ Genom Precis Med. 2021 Jun;14(3):e003273.
18. Bosman LP, Sammani A, James CA, et al. Predicting arrhythmic risk in arrhythmogenic right ventricular cardiomyopathy: A systematic review and meta-analysis. Heart Rhythm. 2018 Jul;15(7):1097–1107.
19. Bhonsale A, Groeneweg JA, James CA, et al. Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers. Eur. Heart J. 2015, 36, 847–855.
20. E Verstraelen T, van Lint FHM, Bosman LP, et al. Prediction of ventricular arrhythmia in phospholamban p.Arg14del mutation carriers–reaching the frontiers of individual risk prediction. Eur. Hear. J. 2021, 42, 2842– 2850.
21. Corrado D, Migliore F, Zorzi A. Arrhythmic risk stratification in arrhythmogenic cardiomyopathy: New predictors for left-sided variants? Eur. Hear. J. 2021, 42, 2851–2853.
22. Protonotarios A, Bariani R, Cappelletto C, et al. Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator. Eur Heart J. 2022 Aug 21;43(32):3053–3067.
23. Jordà P, Bosman LP, Gasperetti A, et al. Arrhythmic risk prediction in arrhythmogenic right ventricular cardiomyopathy: external validation of the arrhythmogenic right ventricular cardiomyopathy risk calculator. Eur Heart J. 2022 Aug 21;43(32):3041–3052.
24. Inoue H, Nakamura S, Higo S, et al. Modeling reduced contractility and impaired desmosome assembly due to plakophilin-2 deficiency using isogenic iPS cell-derived cardiomyocytes. Stem Cell Reports. 2022 Feb 8;17(2):337–351.
25. TN-401:программа PKP2 для генной терапии аритмогенной кардиомиопатии. https://www.tenayatherapeutics.com/our-programs/.
26. Ohno S. The genetic background of arrhythmogenic right ventricular cardiomyopathy. J Arrhythm. 2016 Oct;32(5):398–403.
Review
For citations:
Kofeynikova O.A., Alekseeva D.Yu., Kostareva A.A., Vasichkina E.S. Modern view on genetic aspects of arrhythmogenic cardiomyopathy. Russian Journal for Personalized Medicine. 2023;3(2):38-45. (In Russ.) https://doi.org/10.18705/27823806-2023-3-2-38-45
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