Cardiac Genetic Investigation of Young Sudden Unexplained Death and Resuscitated Out of Hospital Cardiac Arrest - 21/11/11

Doi : 10.1016/j.hlc.2011.07.015

Jitendra Vohra, FRACP, MD ^a,^b,^⁎ , Jonathan Skinner, FRACP ^c, Christopher Semsarian, FRACP, PhD ^d,^e
^a Department of Cardiology, Royal Melbourne Hospital and University of Melbourne, Victoria, Australia
^b Department of Genetics, Royal Melbourne Hospital and University of Melbourne, Victoria, Australia
^c Greenlane Paediatric and Congenital Cardiac Services, Starship Children’s Hospital, Auckland, New Zealand
^d Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia
^e Central Clinical School, University of Sydney, Sydney, Australia

Corresponding author at: Department of Cardiology, Royal Melbourne Hospital, Victoria 3050, Australia.

Résumé

Nearly 30% of young sudden deaths have negative autopsies and these sudden unexplained deaths (SUDs) are presumed to be due to heritable cardiac arrhythmias attributed to cardiac ion channel disorders. Comprehensive cardiac and genetic testing of families of SUD is helpful in the detection of inherited cardiac genetic conditions. It frequently provides a clue to the cause of death in SUD victims and allows early diagnosis and opportunities to prevent SUD in other family members.

Out of Hospital Cardiac Arrest (OHCA) victims and their families also require similar assessment, although the role of genetic testing in this group should be reserved to patients where a clinical diagnosis is established. A team approach with multidisciplinary specialised clinics and increased access to genetic analysis is very helpful in achieving these goals.

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Keywords : Sudden unexplained death, Out of Hospital Cardiac Arrests