Mayo Clinic researchers find useful test for identifying patients

ROCHESTER, MINN. -- In the past, when a seemingly healthy child collapsed on the basketball court during the heat of the game, parents and medical professionals were sometimes left with few explanations of why.

Now, genomic medicine has helped Mayo Clinic researchers find a renewed use for a test once deemed ineffective in detecting a cardiac condition sometimes cited as the cause of previously unexplained sudden deaths.

"This is a test we use to determine if patients are at risk of long QT syndrome," says Michael J. Ackerman, M.D., Ph.D., director of the Long QT Syndrome Clinic at Mayo Clinic and the principal investigator of a study that appears in the May issue of Mayo Clinic Proceedings. "We feel the best place for patients to have their first episode is under medical care rather than while running down the street."

Mayo Clinic researchers discovered a unique response among certain patients with long QT syndrome when epinephrine was infused into their bodies, while being monitored with a 12-lead electrocardiogram. In the past when the genetic sub-types of long QT were not known, the response to adrenaline was scattered and not definitive.

"Human Genome Project insights have translated into a revival of an old clinical test," says Dr. Ackerman. "It was rediscovered as potentially useful when you understand the response to the test depends on the underlying genetic defect."

The study in Mayo Clinic Proceedings identifies a specific response in people with long QT syndrome 1 (LQT1) compared with other genotypes of long QT syndrome. LQT1 affects about 1 in 20,000 people and can have effects ranging from fainting to sudden death. It is suspected in some unexplained drownings.

Along with Dr. Ackerman, other Mayo Clinic researchers involved in the study were: Anant Khositseth, M.D.; David J. Tester, B.S.; Joseph B. Hejlik, R.N.; Win-Kuang Shen, M.D. and Co-Burn Porter, M.D.

"The present work represents a welcom

Contact: John Murphy
Mayo Clinic

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