Screening may Reduce Sudden Death
Reported December 23, 2005
(Ivanhoe Newswire) — Researchers in Italy have a found a way to screen for a condition commonly associated with sudden death and other cardiac irregularities.
Long QT syndrome is an inherited disease that predisposes a person to increased risk for sudden death or heart rhythm irregularities. People with this condition are known to have a genetic mutation called LQTS mutation. This group is likely to go undiagnosed with available testing methods. If untreated, they have a 10 percent chance of a major heart complication by age 40.
There are two primary forms of this condition, Romano-Ward syndrome, the more common of the two, and Jervell and Lange-Nielson syndrome. Recently, two other variants have been discovered.
In a new study, Italian researchers examined 430 patients with Romano-Ward syndrome and 1,115 family members. They also tested for the mutation in a control group of 75 patients.
Their research turned up 235 different mutations in 72 percent of the patients. Of those mutations, 138 were new. Armed with this information, researchers say they will be better able to identify many individuals with this syndrome. This is especially important because the severity of the disease tends to vary depending on the genetic mutations, creating a critical need to find ways to perform a genetic analysis.
Researchers believe these findings may open the doors to genetic testing of more people who are at increased risk and who would be otherwise likely to go undiagnosed. They suggest it may even be useful in the general population to define the prevalence of other known genetic variants.
“This novel method may facilitate wider access to genotyping resulting in better risk stratification and treatment of LQTS patients,” researchers say.
SOURCE: The Journal of the American Medical Association, 2005;294:2975-2980
