title: Sudden Unexplained Death - Treating the Family.
abstract: Sudden unexplained death in the context of a normal heart at post-mortem and negative toxicological analysis is termed sudden arrhythmic death syndrome (SADS). SADS is often due to cardiac genetic disease, particularly channelopathies. Assessment of family members of SADS victims will reveal at least one affected individual in up to half of families. Specialist evaluation begins with an expert cardiac autopsy that improves diagnostic accuracy and minimises erroneous interpretation of minor pathological findings. Retention of appropriate material for post-mortem genetic testing, 'the molecular autopsy', is recommended as this may provide a genetic diagnosis in up to a third of cases. Clinical assessment of families initially comprises 12-lead ECG with high right ventricular leads, echocardiogram and exercise testing. Additional investigations include sodium channel blocker and epinephrine provocation tests. Families with a diagnosis should be managed as per guidelines. Those with negative investigations can generally be discharged unless they are young and/or symptomatic.
authors.affiliation: Clinical Research Fellow & Specialist Registrar Cardiology.
authors.forename: Greg
authors.initials: G
authors.lastname: Mellor
authors.affiliation: Reader in Cardiovascular Medicine & Honorary Consultant Cardiologist & Electrophysiologist Cardiac Research Centre, Institute of Cardiovascular and Cell Sciences, St. George's University of London, London.
authors.forename: Elijah R
authors.initials: ER
authors.lastname: Behr
keywords: Sudden death; exercise test; family assessment; molecular autopsy; post-mortem; sudden arrhythmic death syndrome
references.citation: Mayo Clin Proc. 2002 May;77(5):413-21
references.pmid: 12004990
references.citation: J Am Coll Cardiol. 2010 Feb 23;55(8):789-97
references.pmid: 20170818
references.citation: Circ Arrhythm Electrophysiol. 2014 Oct;7(5):800-6
references.pmid: 25194972
references.citation: Circulation. 2005 Jul 12;112(2):207-13
references.pmid: 15998675
references.citation: Heart. 2012 Apr;98(8):631-6
references.pmid: 22505462
references.citation: J Cardiovasc Electrophysiol. 2012 Feb;23(2):194-9
references.pmid: 21954897
references.citation: Europace. 2013 Jul;15(7):1050-8
references.pmid: 23382499
references.citation: Circulation. 2005 Oct 11;112(15):2228-34
references.pmid: 16203906
references.citation: Heart. 2010 Dec;96(23):1904-8
references.pmid: 20962343
references.citation: Eur Heart J. 2010 Jun;31(11):1357-64
references.pmid: 20233789
references.citation: Circ Arrhythm Electrophysiol. 2012 Oct;5(5):933-40
references.pmid: 22944906
references.citation: Eur Heart J. 2001 Dec;22(24):2290-6
references.pmid: 11728150
references.citation: Europace. 2009 Oct;11(10):1353-8
references.pmid: 19700472
references.citation: Circulation. 2009 Jul 14;120(2):106-17, 1-4
references.pmid: 19564561
references.citation: Circulation. 2001 Oct 30;104(18):2158-63
references.pmid: 11684624
references.citation: J Am Coll Cardiol. 2003 Feb 19;41(4):633-42
references.pmid: 12598076
references.citation: Virchows Arch. 2008 Jan;452(1):11-8
references.pmid: 17952460
references.citation: Heart Rhythm. 2011 Nov;8(11):1698-704
references.pmid: 21699858
references.citation: J Cardiovasc Electrophysiol. 2000 Apr;11(4):396-404
references.pmid: 10809492
references.citation: Clin Radiol. 2011 Jul;66(7):645-50
references.pmid: 21377145
references.citation: Europace. 2013 Mar;15(3):314
references.pmid: 22804909
references.citation: Europace. 2011 Aug;13(8):1077-109
references.pmid: 21810866
references.citation: Europace. 2014 Jun;16(6):899-907
references.pmid: 24148315
references.citation: Heart Rhythm. 2014 Apr;11(4):655-62
references.pmid: 24440382
references.citation: Heart Rhythm. 2014 Jul;11(7):1176-83
references.pmid: 24721456
references.citation: Heart Rhythm. 2011 Mar;8(3):412-9
references.pmid: 21070882
references.citation: Lancet. 2012 Jan 14;379(9811):136-42
references.pmid: 22112684
references.citation: Circulation. 2010 Apr 6;121(13):1533-41
references.pmid: 20172911
references.citation: Europace. 2013 Oct;15(10):1389-406
references.pmid: 23994779
references.citation: N Engl J Med. 2009 Dec 24;361(26):2529-37
references.pmid: 19917913
references.citation: J Cardiovasc Electrophysiol. 2012 Oct;23 (10 ):1092-8
references.pmid: 22882672
references.citation: Heart Rhythm. 2010 Oct;7(10):1383-9
references.pmid: 20646679
references.citation: J Am Coll Cardiol. 2007 Jan 16;49(2):240-6
references.pmid: 17222736
references.citation: Circulation. 2011 Nov 15;124(20):2187-94
references.pmid: 22042885
references.citation: Am J Forensic Med Pathol. 2001 Jun;22(2):105-11
references.pmid: 11394742
references.citation: Eur Heart J. 2011 Apr;32(8):983-90
references.pmid: 21131293
references.citation: Nat Rev Cardiol. 2013 Oct;10(10):571-83
references.pmid: 23900354
references.citation: J Am Coll Cardiol. 2013 Feb 26;61(8):863-9
references.pmid: 23428218
references.citation: Heart Rhythm. 2013 Feb;10(2):247-54
references.pmid: 23089898
references.citation: Circulation. 2011 Mar 29;123(12):1270-9
references.pmid: 21403098
references.citation: Circulation. 2006 Mar 21;113(11):1385-92
references.pmid: 16534005
references.citation: Cardiovasc Res. 2001 May;50(2):399-408
references.pmid: 11334844
references.citation: Mayo Clin Proc. 2012 Jun;87(6):524-39
references.pmid: 22677073
references.citation: N Engl J Med. 2008 May 8;358(19):2016-23
references.pmid: 18463377
references.citation: Heart. 2009 Sep;95(17):1409-14
references.pmid: 19443476
references.citation: Europace. 2011 Oct;13(10):1411-8
references.pmid: 21798877
references.citation: Med J Aust. 2004 Feb 2;180(3):110-2
references.pmid: 14748671
references.citation: Heart Rhythm. 2012 Mar;9(3):414-21
references.pmid: 22119454
references.citation: Heart Rhythm. 2013 Nov;10(11):1653-60
references.pmid: 23973953
references.citation: Heart Rhythm. 2010 Apr;7(4):481-6
references.pmid: 20167303
references.citation: Circulation. 2011 Nov 15;124(20):2181-4
references.pmid: 22083145
references.citation: Circ Arrhythm Electrophysiol. 2013 Jun;6(3):588-96
references.pmid: 23671135
references.citation: Lancet. 2003 Nov 1;362(9394):1457-9
references.pmid: 14602442
references.citation: Eur Heart J. 2008 Jul;29(13):1670-80
references.pmid: 18508782
references.citation: Heart Rhythm. 2005 Dec;2(12):1277-82
references.pmid: 16360077
references.citation: Circulation. 2005 Feb 8;111(5):659-70
references.pmid: 15655131
references.citation: Circ Arrhythm Electrophysiol. 2014 Dec;7(6):1078-83
references.pmid: 25262685