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European Heart Journal Advance Access originally published online on May 27, 2008
European Heart Journal 2008 29(13):1670-1680; doi:10.1093/eurheartj/ehn219
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Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2008. For permissions please email: journals.permissions@oxfordjournals.org

Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families

Elijah R. Behr1,*, Chrysoula Dalageorgou1, Michael Christiansen2, Petros Syrris3, Sian Hughes3, Maria T. Tome Esteban3, Edward Rowland3, Steve Jeffery1 and William J. McKenna3

1 Cardiac and Vascular Division, St George’s University of London, Cranmer Terrace, London SW17 0RE, UK
2 Statens Serum Institut, Copenhagen, Denmark
3 The Heart Hospital, University College Hospital, London, UK

Received 27 November 2007; revised 8 April 2008; accepted 6 May 2008; online publish-ahead-of-print 27 May 2008.

* Corresponding author. Tel: +44 208 725 5939, Fax: +44 208 725 3328, Email: ebehr{at}sgul.ac.uk

Aims: At least 4% of sudden deaths are unexplained at autopsy [sudden arrhythmic death syndrome (SADS)] and a quarter may be due to inherited cardiac disease. We hypothesized that comprehensive clinical investigation of SADS families would identify more susceptible individuals and causes of death.

Methods and results: Fifty seven consecutively referred families with SADS death underwent evaluation including resting 12 lead, 24 h and exercise ECG and 2D echocardiography. Other investigations included signal averaged ECG, ajmaline testing, cardiac magnetic resonance imaging, and mutation analysis. First-degree relatives [184/262 (70%)] underwent evaluation, 13 (7%) reporting unexplained syncope. Seventeen (30%) families had a history of additional unexplained premature sudden death(s). Thirty families (53%) were diagnosed with inheritable heart disease: 13 definite long QT syndrome (LQTS), three possible/probable LQTS, five Brugada syndrome, five arrhythmogenic right ventricular cardiomyopathy (ARVC), and four other cardiomyopathies. One SCN5A and four KCNH2 mutations (38%) were identified in 13 definite LQTS families, one SCN5A mutation (20%) in five Brugada syndrome families and one (25%) PKP2 (plakophyllin2) mutation in four ARVC families.

Conclusion: Over half of SADS deaths were likely to be due to inherited heart disease; accurate identification is vital for appropriate prophylaxis amongst relatives who should undergo comprehensive cardiological evaluation, guided and confirmed by mutation analysis.

Key Words: SADS • Sudden death • Clinical genetics • Long QT syndrome • Brugada syndrome • Cardiomyopathy


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