https://doi.org/10.4081/jbr.2024.12184
Sudden cardiac death in the young. From gross to molecular autopsy
Submitted: December 12, 2023
Accepted: March 5, 2024
Published: April 18, 2024
Accepted: March 5, 2024
Abstract Views: 952
PDF: 140
Publisher's note
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Authors
Sudden Cardiac Death (SCD) may complicate diseases of the heart and great vessels. The cause is easily visible at the naked eye at autopsy in the presence of coronary thrombosis, aortic dissection, pulmonary thromboembolism, or at the microscope with histological anomalies (inflammation, necrosis, storage, fibrosis). However, there are cases of SCD in which the heart appears normal, both at gross and histological examination. They may present electrocardiogram (ECG) disorders of depolarization and repolarization of myocardial electrical activity (long and short QT, repolarization syndrome) or of electro-mechanical coupling (catecholaminergic ventricular tachycardia), due to alterations of Na+, K+or Ca++ flows, known as channelopathies. They are genetic, hereditary morbid entities transmitted at the time of conception. Molecular studies of SCD at autopsy include both the detection of viral genomes in inflammatory cardiomyopathies and gene mutations in either structural or nonstructural genetically determined heart diseases.
Morgagni GB. Nova Institutionum Medicarum Idea. Patavii: apud Josephum Coronam sub signo Coronae, 1712.
Basso C, Carturan E, Pilichou K, et al. Sudden cardiac death with normal heart: molecular autopsy. Cardiovasc Pathol 2010;19:321-5.
DOI: https://doi.org/10.1016/j.carpath.2010.02.003
Thiene G, Rizzo S, Schiavon M, et al. Structurally normal hearts are uncommonly associated with sudden deaths in athletes and young people. J Am Coll Cardiol 2019;73:3031-2.
DOI: https://doi.org/10.1016/j.jacc.2019.03.497
McWilliam JA. Cardiac failure and sudden death. Br Med J 1889;1:6-8.
DOI: https://doi.org/10.1136/bmj.1.1462.6
Mendel JG. Versuche über Pflanzenhybriden [Experiments on Plant Hybrids]. In: Verhandlungen des Naturforschenden Vereins Brünn 1865;4:3–47.
Watson JD, Crick FHC. A Structure for Deoxyribose Nucleic Acid. Nature 1953;171:737-8.
DOI: https://doi.org/10.1038/171737a0
Mullis K, Faloona F, Scharf S, et al. Specific enzymatic amplification of DNA in vitro: the polymerase chain reaction. Cold Spring Harb Symp Quant Biol 1986;51:263-73.
DOI: https://doi.org/10.1101/SQB.1986.051.01.032
Thiene G, Corrado D, Basso C. Sudden cardiac death in the young and athletes. Text Atlas of Pathology and Clinical Correlates. Springer-Verlag Mailand 2016.
DOI: https://doi.org/10.1007/978-88-470-5776-0
Thiene G. Sudden cardiac death in the young: a genetic destiny? Clin Med (Lond) 2018:18:s17-s23.
DOI: https://doi.org/10.7861/clinmedicine.18-2-s17
Thiene G. Sudden cardiac death and cardiovascular pathology: from anatomic theater to double helix. Am J Cardiol 2014:15;114:1930-6.
DOI: https://doi.org/10.1016/j.amjcard.2014.09.037
Basso C, Aguilera B, Banner J, at al. Guidelines for autopsy investigation of sudden cardiac death: 2017 update from the Association for European Cardiovascular Pathology. Virchows Arch 2017:471:691-705.
DOI: https://doi.org/10.1007/s00428-017-2221-0
Corrado D, Basso C, Rizzoli G, et al. Does sports activity enhance the risk of sudden death in adolescents and young adults? J Am Coll Cardiol 2003;42:1959-63.
DOI: https://doi.org/10.1016/j.jacc.2003.03.002
Thiene G, Rizzo S, Basso C. Pathology of sudden death, cardiac arrhythmias and conduction system (Chapter 10). In: Buja LM, Butany J (Eds) Cardiovascular Pathology 4th edition. Elsevier 2015 pp. 361-433.
DOI: https://doi.org/10.1016/B978-0-12-420219-1.00010-0
Corrado D, Basso C, Poletti A, et al. Sudden death in the young. Is acute coronary thrombosis the major precipitating factor? Circulation 1994;90:2315-23.
DOI: https://doi.org/10.1161/01.CIR.90.5.2315
Corrado D, Thiene G, Buja GF, et al. The relationship between growth of atherosclerotic plaques, variant angina and sudden death. Int J Cardiol 1990;26:361-7.
DOI: https://doi.org/10.1016/0167-5273(90)90095-M
Rizzo S, Coen M, Sakic A, et al. Sudden coronary death in the young: Evidence of contractile phenotype of smooth muscle cells in the culprit atherosclerotic plaque. Int J Cardiol 2018;264:1-6.
DOI: https://doi.org/10.1016/j.ijcard.2018.02.096
Thiene G, Rizzo S, Basso C. Coronary atherosclerosis: a neglected cause of sudden cardiac death in the young. IntechOpen. 2023.
DOI: https://doi.org/10.5772/intechopen.1002518
Basso C, Maron BJ, Corrado D, Thiene G. Clinical profile of congenital coronary artery anomalies with origin from the wrong aortic sinus leading to sudden death in young competitive athletes. J Am Coll Cardiol 2000;35:1493-501.
DOI: https://doi.org/10.1016/S0735-1097(00)00566-0
Thiene G, Nava A, Corrado D, et al. Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med 1988;318:129-33.
DOI: https://doi.org/10.1056/NEJM198801213180301
Basso C, Thiene G, Corrado D, et al. Arrhythmogenic right ventricular cardiomyopathy: dysplasia, dystrophy or myocarditis? Circulation 1996;94:983-91.
DOI: https://doi.org/10.1161/01.CIR.94.5.983
Basso C, Thiene G, Corrado D, et al. Hypertrophic cardiomyopathy and sudden death in the young: pathologic evidence of myocardial ischemia. Hum Pathol 2000;31:988-98.
DOI: https://doi.org/10.1053/hupa.2000.16659
Corrado D, Basso C, Schiavon M, Thiene G. Screening for hypertrophic cardiomyopathy in young athletes. N Engl J Med 1998;339:364-9.
DOI: https://doi.org/10.1056/NEJM199808063390602
Rampazzo A, Nava A, Malacrida S, et al. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 2002;71:1200-6.
DOI: https://doi.org/10.1086/344208
Seidman CE, Seidman JG. Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history. Circ Res 2011;108:743-50.
DOI: https://doi.org/10.1161/CIRCRESAHA.110.223834
Basso C, Calabrese F, Corrado D, Thiene G. Postmortem diagnosis in sudden cardiac death victims: macroscopic, microscopic and molecular findings. Cardiovasc Res 2001;50:290-300.
DOI: https://doi.org/10.1016/S0008-6363(01)00261-9
Thiene G, Carturan E, Corrado D, Basso C. Prevention of sudden cardiac death in the young and in athletes: dream or reality? Cardiovasc Pathol 2010;19:207-17.
DOI: https://doi.org/10.1016/j.carpath.2009.04.001
Priori SG, Napolitano C, Humphries SE, Skipworth J. Genetics of Cardiovascular Diseases, in Camm AJ, Lüscher TF, Serruys PW (eds), The ESC Textbook of Cardiovascular Medicine, 2 edn, The European Society of Cardiology. Oxford, 2009; online edn, Oxford Academic, 1 Aug. 2009.
DOI: https://doi.org/10.1093/med/9780199566990.003.009
Leenhardt A, Lucet V, Denjoy I, et al. Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients. Circulation 1995;1;91:1512-9.
DOI: https://doi.org/10.1161/01.CIR.91.5.1512
Tiso N, Stephan DA, Nava A, et al. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet 2001;10:189-94.
DOI: https://doi.org/10.1093/hmg/10.3.189
Bauce B, Rampazzo A, Basso C, et al. Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers. J Am Coll Cardiol 2002;40:341-9.
DOI: https://doi.org/10.1016/S0735-1097(02)01946-0
Tester DJ, Medeiros-Domingo A, Will ML, et al. Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Mayo Clin Proc 2012;87:524–39.
DOI: https://doi.org/10.1016/j.mayocp.2012.02.017
Haïssaguerre M, Derval N, Sacher F, et al. Sudden cardiac arrest associated with early repolarization. N Engl J Med 2008;358:2016-23.
DOI: https://doi.org/10.1056/NEJMoa071968
Carturan E, Tester DJ, Brost BC, et al. Postmortem genetic testing for conventional autopsy-negative sudden unexplained death: an evaluation of different DNA extraction protocols and the feasibility of mutational analysis from archival paraffin-embedded heart tissue. Am J Clin Pathol 2008;129:391-7.
DOI: https://doi.org/10.1309/VLA7TT9EQ05FFVN4
Lucena J, Blanco M, Jurado C, et al. Cocaine-related sudden death: a prospective investigation in south-west Spain. Eur Heart J 2010;31:318-29.
DOI: https://doi.org/10.1093/eurheartj/ehp557
Thiene G, Rizzo S, Basso C. Bicuspid aortic valve: The most frequent and not so benign congenital heart disease. Cardiovasc Pathol 2024;70:107604.
DOI: https://doi.org/10.1016/j.carpath.2024.107604
Basso C, Perazzolo Marra M, Rizzo S, et al. Arrhythmic mitral valve prolapse and sudden cardiac death. Circulation 2015;132:556-66.
DOI: https://doi.org/10.1161/CIRCULATIONAHA.115.016291
Basso C, Corrado D, Rossi L, Thiene G. Ventricular preexcitation in children and young adults: atrial myocarditis as a possible trigger of sudden death. Circulation 2001:103:269-75.
DOI: https://doi.org/10.1161/01.CIR.103.2.269
How to Cite
Thiene, G., Basso, C., De Gaspari, M., & Rizzo, S. (2024). Sudden cardiac death in the young. From gross to molecular autopsy. Journal of Biological Research - Bollettino Della Società Italiana Di Biologia Sperimentale, 97(1). https://doi.org/10.4081/jbr.2024.12184
Copyright (c) 2024 the Author(s)
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
PAGEPress has chosen to apply the Creative Commons Attribution NonCommercial 4.0 International License (CC BY-NC 4.0) to all manuscripts to be published.