Mayo researchers discover overdiagnosis of long QT heart syndrome

ROCHESTER, Minn. -- Congenital long QT syndrome (LQTS) can be lethal if not diagnosed -- yet recent increased awareness of the disorder may lead to diagnosing patients when they dont have the syndrome and then prescribing treatments that restrict patients lifestyles, a new Mayo Clinic study shows.

In their review of 176 patients referred to Mayo Clinic for a second opinion about a diagnosis of LQTS, Mayo specialists found that about 40 percent did not show sufficient evidence to merit that diagnosis. Most of these were dismissed as normal. Of the 176, most were taking drugs to correct a presumed LQTS problem and were restricted from strenuous physical activity, including competitive sports. About 10 percent had undergone surgery to have an implantable cardioverter defibrillator (ICD), a treatment for LQTS.

Two of every five patients who were referred to us with the diagnosis of LQTS left Mayo Clinic without the diagnosis, explains Michael Ackerman, M.D., Ph.D., the pediatric cardiologist who directs Mayos Long QT Syndrome Clinic and is the director of the Mayo Clinic Windland Smith Rice Sudden Death Genomics Laboratory. He is the senior author of a study that appeared in the May 22 issue of Circulation.

This is dramatic evidence of just how challenging LQTS is to correctly diagnose because it can present with such a large variety of symptoms, Dr. Ackerman says. Theres a real need for cautious, comprehensive evaluation by experienced LQTS specialists because there is a risk for overdiagnosis. And when that happens, some of the treatments that patients may receive when they carry this diagnosis -- such as taking medications for life, having a defibrillator implanted, or being restricted from competitive sports -- can have a profound effect on quality of life.

Dr. Ackerman emphasizes that this subset of patients seen at Mayo Clinic may not be representative of all LQTS patients. Their cases may not have been clear in the fi

Contact: Traci Klein
Mayo Clinic

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