Keywords
arrhythmogenic right ventricular dysplasia
cardiomyopathy
How to Cite
Abstract
The article presents a clinical case of arrhythmogenic right ventricular dysplasia. Modern diagnostic approaches for early intravital diagnosis of arrhythmogenic right ventricular dysplasia are analyzed using the example of the presented case of sudden death of a 58-year-old woman. Manifestations may be nonspecific, as in our case, which complicates the diagnosis of this condition. This, in turn, affects the life of the patient, his relatives and future generations. Therefore, it is necessary to conduct a thorough search for all possible causes in order not to miss this rare disease and not to delay diagnosis and treatment.
References
Corrado D, Buja G, Basso C, Thiene G. Clinical diagnosis and management strategies in arrhythmogenic right ventricular cardiomyopathy. J. Electrocardiol. 2000;33: 49-55. DOI: 10.1054/jclc.2000.20323
Fontaine G, Guiraudon G, Frank R. et al. Stimulation studies and epicardial mapping in ventricular tachycardia: Study of mechanisms and selection for surgery. Reentrant Arrhythmias. Ed. by H.E. Kulbertus. Lancaster: MTP Press, 1977. 334-350.
McKenna WJ, Thiene G, Nava A, Fontaliran F, Blomstrom-Lundqvist C, Fontaine G, 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;71:215-8.
Report of the WHO/ISFC Task Force on the Definition and Classification of Cardiomyopathy. Br. Heart J. 1980;44: 672-673. DOI: 10.1136/hrt.71.3.215
Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force criteria. Eur Heart J. 2010;31:806-14. doi: 10.1161/CIRCULATIONAHA.108.840827
Andreasen C, Nielsen JB, Refsgaard L, Holst AG, Christensen AH, Andreasen L, Sajadieh A, Haunso S, Svendsen JH, Olesen MS. New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. Eur. J. Hum. Genet. 2013;21(9):918-928. DOI: 10.1038/ejhg.2012.283
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 2015;17(5):405-424. doi:10.1038/gim.2015.30
Angelini A, Basso C, Nava A, Thiene G. Endomyocardial biopsy in right ventricular cardiomyopathy. Int J Cardiol. 1996;132:203-6. doi: 10.1038/gim.2015.30
Basso C, Ronco F, Marcus F, Abudureheman A, Rizzo S, Frigo AC, et al. Quantitative assessment of endomyocardial biopsy in arrhythmogenic right ventricular cardiomyopathy/dysplasia: an in vitro validation of diagnostic criteria. Eur Heart J. 2008;29:2760-71. doi.org/10.1093/eurheartj/ehn415
Corrado D, Basso C, Judg DP. Arrhythmogenic Cardiomyopathy. Circ Res. 2017;121:784-802. DOI: 10.1161/CIRCRESAHA.117.309345
Asimaki A, Tandri H, Duffy ER, Winterfield JR, Mackey-Bojack S, Picken MM, et al. Altered desmosomal proteins in granulomatous myocarditis and potential pathogenic links to arrhythmogenic right ventricular cardiomyopathy. Circ Arrhythm Electrophysiol. 2011;4:743-52. doi: 10.1161/CIRCEP.111.964890