Sudden cardiac death and cardiovascular pathology: From anatomic theater to double helix

American Journal of Cardiology

Volumn 114, Issue 12, 2014, Pages 1930-1936

  Thiene, Gaetano ^a  

^a UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DESMOCOLLIN; DESMOCOLLIN 2; DESMOGLEIN 2; DESMOPLAKIN; PLAKOGLOBIN; PLAKOPHILIN 2; POTASSIUM CHANNEL; RYANODINE RECEPTOR; RYANODINE RECEPTOR 2; SODIUM CHANNEL; UNCLASSIFIED DRUG;

ACUTE HEART INFARCTION; AMINO ACID SUBSTITUTION; AORTA VALVE STENOSIS; ATHEROSCLEROTIC PLAQUE; ATHLETE; AUTOPSY; BRUGADA SYNDROME; CARDIOGENIC SHOCK; CARDIOMEGALY; CARDIOVASCULAR DISEASE; CARDIOVASCULAR MAGNETIC RESONANCE; CARDIOVASCULAR MORTALITY; CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA; COMPUTER ASSISTED TOMOGRAPHY; CORONARY ARTERY ATHEROSCLEROSIS; CORONARY ARTERY SPASM; CYCLING; EARLY DIAGNOSIS; ELECTROCARDIOGRAM; EPIDEMIOLOGICAL DATA; FORENSIC PATHOLOGY; GENE MUTATION; GENETIC SCREENING; HEART PREEXCITATION; HEART RIGHT VENTRICLE DYSPLASIA; HEART VENTRICLE HYPERTROPHY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; ITALY; JUVENILE; LONG QT SYNDROME; MITRAL VALVE PROLAPSE; MOLECULAR GENETICS; MYOCARDITIS; PATHOLOGICAL ANATOMY; PATHOLOGIST; PHYSICIAN; POPULATION; PRIORITY JOURNAL; PROSPECTIVE STUDY; REVIEW; SUDDEN CARDIAC DEATH; SUDDEN INFANT DEATH SYNDROME; TWO DIMENSIONAL ECHOCARDIOGRAPHY; WOLFF PARKINSON WHITE SYNDROME; CARDIOVASCULAR DISEASES; COMPLICATION; DEATH, SUDDEN, CARDIAC; DIFFERENTIAL DIAGNOSIS; HEART MUSCLE; PATHOLOGY;

AUTOPSY; CARDIOVASCULAR DISEASES; DEATH, SUDDEN, CARDIAC; DIAGNOSIS, DIFFERENTIAL; HUMANS; MYOCARDIUM;

EID: 84922244614     PISSN: 00029149     EISSN: 18791913     Source Type: Journal    
DOI: 10.1016/j.amjcard.2014.09.037     Document Type: Review

References (40)

1. Vesalio A. De Humani Corporis Fabrica Libri Septem. Basileae: Per Ioannem Oporinum, 1543
2. Harvey W. Exercitatio Anatomica de Motu Cordis et Sanguinis in Animalibus. Francofurti: Sumptibus Guilielmi Fitzeri, 1628
3. Morgagni GB. De Sedibus et Causis Morborum per Anatomen Indagatis Libri Quinque. Venetiis: ex typographia Remondiniana, 1761
4. White PD. Heart Disease. New York: Macmillan, 1931
5. Blackburn H. 20th-Century "medical Marco Polos" in the origins of preventive cardiology and cardiovascular disease epidemiology. Am J Cardiol 2012;109: 756-767
6. Thiene G, Basso C, Corrado D. Cardiovascular causes of sudden death. In: Silver MD, Gotlieb AI, Schoen FJ, eds. Cardiovascular Pathology. 3rd Edition. Philadelphia: Churchill Livingstone, 2001: 326-374
7. Basso C, Carturan E, Pilichou K, Rizzo S, Corrado D, Thiene G. Sudden cardiac death with normal heart: molecular autopsy. Cardiovasc Pathol 2010;19: 321e325
8. Basso C, Frescura C, Corrado D, Muriago M, Angelini A, Daliento L, Thiene G. Congenital heart disease and sudden death in the young. Hum Pathol 1995;26: 1065-1072
9. Basso C, Boschello M, Perrone C, Mecenero A, Cera A, Bicego D, Thiene G, De Dominicis E. An echocardiographic survey of primary school children for bicuspid aortic valve. Am J Cardiol 2004;93: 661e663
10. Nistri S, Basso C, Marzari C, Mormino P, Thiene G. Frequency of bicuspid aortic valve in young male conscripts by echocardiogram. Am J Cardiol 2005;96: 718e721
11. Nistri S, Sorbo MD, Marin M, Palisi M, Scognamiglio R, Thiene G. Aortic root dilatation in young men with normally functioning bicuspid aortic valves. Heart 1999;82: 19e22
12. Corrado D, Basso C, Poletti A, Angelini A, Valente M, Thiene G. Sudden death in the young. Is acute coronary thrombosis the major precipitating factor? Circulation 1994;90: 2315-2323
13. Corrado D, Thiene G, Buja GF, Pantaleoni A, Maiolino P. The relationship between growth of atherosclerotic plaques, variant angina and sudden death. Int J Cardiol 1990;26: 361e367
14. Basso C, Morgagni GL, Thiene G. Spontaneous coronary artery dissection: A neglected cause of acute myocardial ischaemia and sudden death. Heart 1996;75: 451-454
15. Frescura C, Basso C, Thiene G, Corrado D, Pennelli T, Angelini A, Daliento L. Anomalous origin of coronary arteries and risk of sudden death: A study based on an autopsy population of congenital heart disease. Hum Pathol 1998;29: 689e695
16. 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: 1493-1501
17. Basso C, Calabrese F, Corrado D, Thiene G. Postmortem diagnosis in sudden cardiac death victims: macroscopic, microscopic and molecular findings. Cardiovasc Res 2001;50: 290e300
18. Basso C, Thiene G, Corrado D, Buja G, Melacini P, Nava A. Hypertrophic cardiomyopathy and sudden death in the young: Pathologic evidence of myocardial ischemia. Hum Pathol 2000;31: 988e998
19. Basso C, Thiene G, Mackey-Bojack S, Frigo AC, Corrado D, Maron BJ. Myocardial bridging, a frequent component of the hypertrophic cardiomyopathy phenotype, lacks systematic association with sudden cardiac death. Eur Heart J 2009;30: 1627-1634
20. Thiene G, Nava A, Corrado D, Rossi L, Pennelli N. Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med 1988;318: 129-133
21. Basso C, Thiene G, Corrado D, Angelini A, Nava A, Valente M. Arrhythmogenic right ventricular cardiomyopathy: dysplasia, dystrophy, or myocarditis? Circulation 1996;94: 983e991
22. Basso C, Corrado D, Marcus FI, Nava A, Thiene G. Arrhythmogenic right ventricular cardiomyopathy. Lancet 2009;373: 1289-1300
23. Basso C, Bauce B, Corrado D, Thiene G. Pathophysiology of arrhythmogenic cardiomyopathy. Nat Rev Cardiol 2011;9: 223e233
24. Nava A, Thiene G, Canciani B, Scognamiglio R, Daliento L, Buja G, Martini B, Stritoni P, Fasoli G. Familial occurrence of right ventricular dysplasia: A study involving nine families. J Am Coll Cardiol 1988;12: 1222-1228
25. Nava A, Bauce B, Basso C, Muriago M, Rampazzo A, Villanova C, Daliento L, Buja G, Corrado D, Danieli GA, Thiene G. Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol 2000;36: 2226-2233
26. Rampazzo A, Nava A, Malacrida S, Beffagna G, Bauce B, Rossi V, Zimbello R, Simionati B, Basso C, Thiene G, Towbin JA, Danieli GA. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 2002;71: 1200-1206
27. Pilichou K, Nava A, Basso C, Beffagna G, Bauce B, Lorenzon A, Frigo G, Vettori A, Valente M, Towbin J, Thiene G, Danieli GA, Rampazzo A. Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation 2006;113: 1171e1179
28. Pilichou K, Remme CA, Basso C, Campian ME, Rizzo S, Barnett P, Scicluna BP, Bauce B, van den Hoff MJ, de Bakker JM, Tan HL, Valente M, Nava A, Wilde AA, Moorman AF, Thiene G, Bezzina CR. Myocyte necrosis underlies progressive myocardial dystrophy in mouse dsg2-related arrhythmogenic right ventricular cardiomyopathy. J Exp Med 2009;206: 1787-1802
29. Rizzo S, Lodder EM, Verkerk AO, Wolswinkel R, Beekman L, Pilichou K, Basso C, Remme CA, Thiene G, Bezzina CR. Intercalated disc abnormalities, reduced Na+ current density and conduction slowing in desmoglein-2 mutant mice prior to cardiomyopathic changes. Cardiovasc Res 2012;95: 409-418
30. Basso C, Burke M, Fornes P, Gallagher PJ, de Gouveia RH, Sheppard M, Thiene G, van der Wal A; Association for European Cardiovascular Pathology. Guidelines for autopsy investigation of sudden cardiac death. Virchows Arch 2008;452: 11e18
31. 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: 269e275
32. Ometto R, Thiene G, Corrado D, Vincenzi M, Rossi L. Enhanced A-V nodal conduction (Lown-Ganong-Levine syndrome) by congenitally hypoplastic A-V node. Eur Heart J 1992;13: 1579-1584
33. Carturan E, Tester DJ, Brost BC, Basso C, Thiene G, Ackerman MJ. 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 paraffinembedded heart tissue. Am J Clin Pathol 2008;129: 391e397
34. Corrado D, Basso C, Buja G, Nava A, Rossi L, Thiene G. Right bundle branch block, right precordial ST-segment elevation, and sudden death in young people. Circulation 2001;103: 710e717
35. Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, Larderet G, Brahmbhatt B, Brown K, Bauce B, Muriago M, Basso C, Thiene G, Danieli GA, Rampazzo A. 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: 189-194
36. Corrado D, Basso C, Rizzoli G, Schiavon M, Thiene G. Does sports activity enhance the risk of sudden death in adolescents and young adults? J Am Coll Cardiol 2003;42: 1959-1963
37. Corrado D, Basso C, Thiene G. Essay: Sudden death in young athletes. Lancet 2005;366(Suppl 1): S47eS48
38. Corrado D, Basso C, Schiavon M, Thiene G. Screening for hypertrophic cardiomyopathy in young athletes. N Engl J Med 1998;339: 364e369
39. Corrado D, Basso C, Pavei A, Michieli P, Schiavon M, Thiene G. Trends in sudden cardiovascular death in young competitive athletes after implementation of a preparticipation screening program. JAMA 2006;296: 1593-1601
40. 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: 207e217.