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 percent 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 one to 50 years dies suddenly, autopsy reveals an inheritable heart disease in the majority of the victims. But in approximately 20 percent autopsy does not reveal the cause of death. "We thought that cardiologic 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 study, 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 percent), 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 cardiologic 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 percent of the families. These results meant that doctors were able to treat affected relatives and try to prevent their succumbing to sudden cardiac death. "The scale of heart disease that we found in such families underlines the necessity for general practitioners to refer first degree relatives of SUD victims to a specialised cardiogenetics department as soon as possible", said van der Werf. "Currently we estimate that only ten percent of SUD families are being examined for inherited heart conditions.”
MEDICA.de; Source: European Society of Human Genetics