Investigating Unexplained Sudden Cardiac Death

• Research type

  Research Study

• Full title

  Novel Diagnostic and Genomic Markers in Unexplained Sudden Cardiac Death: A Translational Cardiac Pathology Study

• IRAS ID

  217203

• Contact name

  Elijah Behr

• Sponsor organisation

  St George's, University of London

• Duration of Study in the UK

  10 years, 0 months, 1 days

• Research summary

  Sudden cardiac death is the sudden and unexpected death of a person due to cardiac causes. There are up to 1,000 cases every year where no cause can be found, despite examination of the heart by a cardiac pathologist. In younger individuals, the cause is more likely to be inherited. If sudden death is unexplained despite an appropriate autopsy and toxicological assessment the term Sudden Arrhythmic Death Syndrome (SADS) may be used. Furthermore, subtle abnormalities of the heart’s structure are occasionally reported and may also be associated with inherited disease.
  Common arrhythmic, or electrical, causes of death are known as cardiac channelopathies and their underlying disease process is poorly understood. Channelopathies are often caused by genetic abnormalities which may be shared with blood relatives.
  We propose to analyse heart tissue and the genetic code (DNA/RNA) from unexplained sudden cardiac death victims. We will examine genetic and structural abnormalities associated with inherited cardiac conditions and look for evidence of disease in family members. The primary aim of this study is to determine the number of genetic mutations (alterations in the genetic code) associated with these conditions. Cases referred to the cardiac pathology service at St George’s University London over a ten-year period will be studied.
  Participants in the study will be family members of victims, who routinely undergo screening for heart conditions in hospital following the unexplained death of a family member. The addition of modern genetic testing and tissue examination techniques described in this study can be utilised to explore new markers of disease and may help determine future risk of sudden death in blood relatives.

• REC name

  London - City & East Research Ethics Committee

• REC reference

  17/LO/0747

• Date of REC Opinion

  19 May 2017

• REC opinion

  Favourable Opinion