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Genetics and cardiovascular disease—causes and prevention of unexpected sudden adult death: the role of the SADS clinic
  1. L M Nunn,
  2. P D Lambiase
  1. The Heart Hospital, University College Hospital & Institute of Cardiovascular Sciences, UCL, London, UK
  1. Correspondence to Dr Pier D Lambiase, The Heart Hospital, University College Hospital and Institute of Cardiovascular Sciences, UCL, 16–18 Westmoreland Street, London W1G 8PH, UK; pier.lambiase{at}uclh.nhs.uk

Abstract

Sudden arrhythmic death syndrome (SADS) accounts for approximately 500 deaths in England and Wales per year. Clinical screening of the surviving first-degree relatives can identify an inherited cardiovascular condition in up to half of families, permitting lifestyle modification and confirmed effective prophylactic therapies to prevent further sudden deaths. Mechanisms for molecular autopsy are available to improve the diagnostic yield but practical barriers to its successful implementation exist. This article reviews the clinical screening of the first-degree relatives of SADS patients, molecular autopsy of probands and the broader implications of national recommendations for the investigation of sudden cardiac death.

  • Cardiac channelopathies
  • cardiomyopathies
  • coroners
  • genetic testing
  • genetics
  • sudden adult death syndrome
  • sudden cardiac death

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Footnotes

  • Funding This work was undertaken at UCLH/UCL who received a proportion of funding from the Department of Health's NIHR Biomedical Research Centres funding scheme. LMN has received an educational grant from St Jude Medical.

  • Competing interests None.

  • Provenance and peer review Commissioned; externally peer reviewed.

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