Genetic screening for sudden cardiac death

Reported by Susan Aldridge, PhD, medical journalist

A new study shows that genetic screening can help those at risk of sudden cardiac death.
Long QT syndrome (LQTS) is an inherited disorder which often predisposes young individuals to cardiac rhythm abnormalities which can lead to sudden death. One sign is a feature seen on the electrocardiogram called QT prolongation. But some of those at risk don't show this feature and don't get diagnosed. They are still at risk and 10 per cent will have a heart attack by age 40.

A team in Pavia, Italy, has looked at how genetic screening might help those at risk of LQTS. They studied 430 patients and 1,115 family members and found 235 different genetic mutations, of which 138 were new, in 310 of these patients. They found that genotyping gave a clear result in 70 per cent of cases, based on current knowledge about the condition. These findings can, they say, justify the more widespread take up of genetic screening for LQTS.

Source
Journal of the American Medical Association 21st December 2005 Volume 294 pages 2975-2980