Cardiac Genetic Investigation of Young Sudden Unexplained Death and Resuscitated Out of Hospital Cardiac Arrest

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• 作者：Jitendra  ; Vohra FRACP ; MD^a ;   ; ^b ;   ; ^{jitendrak.vohra@mh.org.au} ;   ; ^{jituv@bigpond.com} ;   ; ^{jitu@vohra1.com} ; Jonathan  ; Skinner FRACP^c ; Christopher  ; Semsarian FRACP ; PhD^d ;   ; ^e
• 关键词：Sudden unexplained death ; Out of Hospital Cardiac Arrests
• 刊名：Heart, Lung and Circulation
• 出版年：2011
• 出版时间：December 2011
• 年：2011
• 卷：20
• 期：12
• 页码：746-750
• 全文大小：205 K

文摘

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.