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Comprehensive cardiogenetic testing for families of sudden unexplained death victims can save lives
Date:5/26/2009

Vienna, Austria: Relatives of a young person who dies suddenly should always be referred for cardiological and genetic examination in order to identify if they too are at risk of sudden death, a scientist told the annual conference of the European Society of Human Genetics today (Tuesday 26 May). Dr. Christian van der Werf, a research fellow at the Department of Cardiogenetics, Academic Medical Centre, Amsterdam, The Netherlands said that, although his team's research showed that inherited heart disease was present in over 30% of the families of sudden unexplained death (SUD) victims, the majority of such relatives were currently not being referred for examination.

When an individual aged 1-50 years dies suddenly, autopsy reveals an inheritable heart disease in the majority of the victims. But in approximately 20% autopsy does not reveal the cause of death. "We thought that cardiological and genetic examination of surviving first degree relatives of these SUD patients might reveal an inherited heart disease", said Dr. van der Werf.

In the largest such study to date, the team looked at the outcome of first degree relative screening in 127 families who had suffered an SUD and where either there had been no autopsy (53.8%), or the autopsy did not reveal a cause of death. The average age at death of the SUD victims was only 29.8 years old.

The initial examination of the relatives consisted of taking personal and family medical history and a resting ECG. A second cardiac autopsy of the SUD victim was undertaken if tissue had been stored and was available. Additional cardiological examinations of the relatives were performed where necessary. Genetic analysis of the associated candidate gene(s) was performed in material obtained from the deceased person or in those relatives who showed clinical abnormalities.

The researchers found inherited heart disease in 36, or 32% of the families. These results meant that doctors were
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Contact: Mary Rice
mary@mrcommunication.org
European Society of Human Genetics
Source:Eurekalert

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