A prospective study of sudden cardiac death among children and young adults

New England Journal of Medicine

Volumn 374, Issue 25, 2016, Pages 2441-2452

  Bagnall, Richard D ^a,b   Weintraub, Robert G ^e   Ingles, Jodie ^a,b,d   Duflou, Johan ^b,c   Yeates, Laura ^a,d   Lam, Lien ^a   Davis, Andrew M ^e,f   Thompson, Tina ^g   Connell, Vanessa ^e   Wallace, Jennie ^f   Naylor, Charles ^i,j   Crawford, Jackie ^o   Love, Donald R ^p   Hallam, Lavinia ^l   White, Jodi ^i,j   Lawrence, Christopher ^m   Lynch, Matthew ^h   Morgan, Natalie ^h   James, Paul ^e,g   Du Sart, Desirée ^e   Puranik, Rajesh ^b,d   Langlois, Neil ⁿ   Vohra, Jitendra ^e,g   Winship, Ingrid ^e,g   Atherton, John ^k   McGaughran, Julie ^k   Skinner, Jonathan R ^o,q   Semsarian, Christopher ^a,b,d   more..

^a UNIVERSITY OF SYDNEY   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c NSW Health Pathology   (Australia)

^d ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^e UNIVERSITY OF MELBOURNE   (Australia)

^f Royal Melbourne Hospital ^*  (Australia)

^g ROYAL MELBOURNE HOSPITAL   (Australia)

^h VICTORIAN INSTITUTE OF FORENSIC MEDICINE   (Australia)

ⁱ Public Health Microbiology Communicable Diseases Forensic and Scientific Services   (Australia)

^j UNIVERSITY OF QUEENSLAND   (Australia)

^k ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^l CANBERRA HOSPITAL   (Australia)

^m UNIVERSITY OF TASMANIA   (Australia)

ⁿ UNIVERSITY OF ADELAIDE   (Australia)

^o STARSHIP CHILDREN S HOSPITAL   (New Zealand)

^p AUCKLAND CITY HOSPITAL   (New Zealand)

^q UNIVERSITY OF AUCKLAND   (New Zealand)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGE; ARTICLE; AUSTRALIA; AUTOPSY; CARDIOMYOPATHY; CHILD; CORONARY ARTERY DISEASE; DISEASE ASSOCIATION; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; INCIDENCE; INHERITANCE; MAJOR CLINICAL STUDY; MALE; NEW ZEALAND; NIGHT; POPULATION RESEARCH; PRIORITY JOURNAL; PROSPECTIVE STUDY; SEX DIFFERENCE; SUDDEN CARDIAC DEATH; YOUNG ADULT; AGE DISTRIBUTION; CARDIOVASCULAR DISEASE; CAUSE OF DEATH; DEATH, SUDDEN, CARDIAC; GENETIC PREDISPOSITION; GENETICS; INFANT; MORTALITY; NEWBORN; PRESCHOOL CHILD;

ADOLESCENT; ADULT; AGE DISTRIBUTION; AGE FACTORS; AUSTRALIA; AUTOPSY; CARDIOVASCULAR DISEASES; CAUSE OF DEATH; CHILD; CHILD, PRESCHOOL; DEATH, SUDDEN, CARDIAC; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; INCIDENCE; INFANT; INFANT, NEWBORN; MALE; NEW ZEALAND; PROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84975450431     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1510687     Document Type: Article

References (38)

1. Adabag AS, Peterson G, Apple FS, Titus J, King R, Luepker RV. Etiology of sudden death in the community: results of anatomical, metabolic, and genetic evaluation. Am Heart J 2010;159:33-9.
2. Eckart RE, Shry EA, Burke AP, et al. Sudden death in young adults: an autopsybased series of a population undergoing active surveillance. J Am Coll Cardiol 2011;58:1254-61.
3. Doolan A, Langlois N, Semsarian C. Causes of sudden cardiac death in young Australians. Med J Aust 2004;180:110-2.
4. Napolitano C, Bloise R, Monteforte N, Priori SG. Sudden cardiac death and genetic ion channelopathies: long QT, Brugada, short QT, catecholaminergic polymorphic ventricular tachycardia, and idiopathic ventricular fibrillation. Circulation 2012;125:2027-34.
5. Semsarian C, Ingles J, Wilde AA. Sudden cardiac death in the young: the molecular autopsy and a practical approach to surviving relatives. Eur Heart J 2015;36:1290-6.
6. Wilde AA, Behr ER. Genetic testing for inherited cardiac disease. Nat Rev Cardiol 2013;10:571-83.
7. Behr ER, Dalageorgou C, Christiansen M, et al. Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. Eur Heart J 2008;29:1670-80.
8. Winkel BG, Holst AG, Theilade J, et al. Nationwide study of sudden cardiac death in persons aged 1-35 years. Eur Heart J 2011;32:983-90.
9. Papadakis M, Sharma S, Cox S, Sheppard MN, Panoulas VF, Behr ER. The magnitude of sudden cardiac death in the young: a death certificate-based review in England and Wales. Europace 2009;11:1353-8.
10. Corrado D, Basso C, Thiene G. Sudden cardiac death in young people with apparently normal heart. Cardiovasc Res 2001;50:399-408.
11. De Noronha SV, Sharma S, Papadakis M, Desai S, Whyte G, Sheppard MN. Aetiology of sudden cardiac death in athletes in the United Kingdom: a pathological study. Heart 2009;95:1409-14.
12. Puranik R, Chow CK, Duflou JA, Kilborn MJ, McGuire MA. Sudden death in the young. Heart Rhythm 2005;2:1277-82.
13. Tu E, Bagnall RD, Duflou J, Semsarian C. Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases. Brain Pathol 2011;21:201-8.
14. Tester DJ, Ackerman MJ. Postmortem long QT syndrome genetic testing for sudden unexplained death in the young. J Am Coll Cardiol 2007;49:240-6.
15. Tester DJ, Spoon DB, Valdivia HH, Makielski JC, Ackerman MJ. Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases. Mayo Clin Proc 2004;79:1380-4.
16. Skinner JR, Crawford J, Smith W, et al. Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds. Heart Rhythm 2011;8:412-9.
17. Winkel BG, Larsen MK, Berge KE, et al. The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases. J Cardiovasc Electrophysiol 2012;23:1092-8.
18. Bagnall RD, Das K J, Duflou J, Semsarian C. Exome analysis-based molecular autopsy in cases of sudden unexplained death in the young. Heart Rhythm 2014;11:655-62.
19. Kumar S, Peters S, Thompson T, et al. Familial cardiological and targeted genetic evaluation: low yield in sudden unexplained death and high yield in unexplained cardiac arrest syndromes. Heart Rhythm 2013;10:1653-60.
20. Skinner JR, Duflou JA, Semsarian C. Reducing sudden death in young people in Australia and New Zealand: the TRAGADY initiative. Med J Aust 2008;189:539-40.
21. Fromer M, Moran JL, Chambert K, et al. Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. Am J Hum Genet 2012;91:597-607.
22. Bagnall RD, Yeates L, Semsarian C. The role of large gene deletions and duplications in MYBPC3 and TNNT2 in patients with hypertrophic cardiomyopathy. Int J Cardiol 2010;145:150-3.
23. Australian and New Zealand Bureau of Statistics. Statistics. 2015 (http://www.abs.gov. au/AUSSTATS).
24. Sweeting J, Semsarian C. Cardiac abnormalities and sudden infant death syndrome. Paediatr Respir Rev 2014;15:301-6.
25. Tester DJ, Ackerman MJ. Sudden infant death syndrome: how significant are the cardiac channelopathies? Cardiovasc Res 2005;67:388-96.
26. Ackerman MJ, Siu BL, Sturner WQ, et al. Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA 2001;286:2264-9.
27. Arnestad M, Crotti L, Rognum TO, et al. Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation 2007;115:361-7.
28. Mellor G, Raju H, De Noronha SV, et al. Clinical characteristics and circumstances of death in the sudden arrhythmic death syndrome. Circ Arrhythm Electrophysiol 2014;7:1078-83.
29. Papadakis M, Raju H, Behr ER, et al. Sudden cardiac death with autopsy findings of uncertain significance: potential for erroneous interpretation. Circ Arrhythm Electrophysiol 2013;6:588-96.
30. Maron BJ, Doerer JJ, Haas TS, Tierney DM, Mueller FO. Sudden deaths in young competitive athletes: analysis of 1866 deaths in the United States, 1980-2006. Circulation 2009;119:1085-92.
31. Maron BJ, Spirito P, Shen WK, et al. Implantable cardioverter-defibrillators and prevention of sudden cardiac death in hypertrophic cardiomyopathy. JAMA 2007;298:405-12.
32. Van Rijsingen IA, Arbustini E, Elliott PM, et al. Risk factors for malignant ventricular arrhythmias in lamin A/C mutation carriers: a European cohort study. J Am Coll Cardiol 2012;59:493-500.
33. Corrado D, Leoni L, Link MS, et al. Implantable cardioverter-defibrillator therapy for prevention of sudden death in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circulation 2003;108:3084-91.
34. Semsarian C, Hamilton RM. Key role of the molecular autopsy in sudden unexpected death. Heart Rhythm 2012;9:145-50.
35. Bagnall RD, Crompton DE, Petrovski S, et al. Exome-based analysis of cardiac arrhythmia, respiratory control and epilepsy genes in sudden unexpected death in epilepsy. Ann Neurol 2016;79:522-34.
36. Tan HL, Hofman N, Van Langen IM, Van Der Wal AC, Wilde AA. Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation 2005;112:207-13.
37. Priori SG, Wilde AA, Horie M, et al. HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. Heart Rhythm 2013;10:1932-63.
38. Ackerman MJ, Priori SG, Willems S, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm 2011;8:1308-39.