Who needs cardiogenetic testing?

June 2, 2009 by  

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dna4Every year, millions of people die suddenly of unknown causes. In many cases, no autopsy is performed to determine the cause of death. In cases where autopsy was performed, the sudden unexplained death (SUD) is usually due to heart problems. In some cases, no conclusive results can be found.

A study by researchers at the Department of Cardiogenetics, Academic Medical Centre, in Amsterdam reports that hereditary heart disease was detected in a large number of families with a member who died of SUD. The research team looked at 127 families affected by SUD. The SUD victims’ age ranged from 1 to 20 years, with and average of 29.8 years. The researchers conducted autopsies and genetic analysis on the SUD victims as well as their first-degree relatives. The researchers found ´that 32% of the family studied had inherited heart disorders.

According to team leader Dr. Christian van der Werf

“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. Currently we estimate that only 10% of SUD families are being examined for inherited heart conditions.”

With advances in the field of genetics, more and more genetic markers have been discovered that enables people to determine their predisposotion to certain diseases, from breast cancer to Huntington’s disease. In the case of SUD victims, however, family members are usually left guessing.

With their results, the researchers are hoping to stimulate:

  • Performance of autopsy in SUD cases
  • Genetic testing of preserved tissue samples the deceased
  • Referral of family members to cardiogeneticists

Some people actually would prefer not knowing their predisposition to certain diseases. In the case of heart disease, however, a lot can be gained in knowing because heart disease can actually be successful managed with lifestyle modifications and prophylactic medications. In other words, when it comes to cardiac problems, forwarned is forarmed.

Dr. van der Werf continues

“Relatives of young sudden death victims are often referred to cardiologists for cardiological examination. We believe relatives should instead be referred to cardiogenetics departments, where clinical geneticists, cardiologists and psychosocial workers cooperate. These professionals specialise in inherited heart diseases and their clinical and psychosocial implications, and can provide a better quality of care. Additionally, cardiologists should receive more education in inherited heart diseases. By taking these measures we can save lives and avoid further distress for families who have already suffered enough.”

How about you? Would you consider undergoing cardiogenetic testing?

Photo credit: stock. xchng

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