Mayo Clinic researchers zero in on diagnosing sometimes fatal heart rhythm disorder

Long QT syndrome is an uncommon, and sometimes fatal, heart rhythm disorder that is often present from birth. It gets its name from the peculiar pattern of the electrocardiogram (ECG or EKG) seen in people with the disease. It affects one in every 3,000 people in the United States. If untreated, half the people with symptomatic LQTS will die within 10 years after the first symptoms are noticed. People at risk of LQTS include children, teenagers and young adults with unexplained fainting, near drowning, seizures or a history of cardiac arrest.

In this new study, Mayo Clinic researchers discovered the epinephrine QT stress test -- in which a patient is given a medication that stimulates the heart in a way similar to exercise -- reveals concealed type 1 long QT syndrome with a high level of accuracy, says Michael J. Ackerman, M.D., Ph.D., senior author of the study and director of Mayo Clinic's Long QT Syndrome Clinic and Sudden Death Genomics Laboratory.

The epinephrine QT stress test can expose LQT1 at a 75 percent positive prediction rate weeks before confirmation through a blood test for LQTS genetic testing; this blood test became available to doctors across the country beginning in 2004. In addition, the epinephrine QT stress test can provide subsequent physiological confirmation of a LQT1 genetic test result, Dr. Ackerman says.

While LQTS in some people can be diagnosed by the prolonged QT interval on an ECG, nearly 50 percent of LQTS -- particularly type 1 LQTS, the most common subtype -- may go unnoticed because the patient's resting ECG is normal, he says.

"The diagnosis of LQTS remains a daunting challenge," Dr. Ackerman says. "The ECG feature of LQTS can be difficult to recognize or can be entirely absent on a standard ECG. The results of this study show us we have one more tool to expose, unmask and accurately diagnosis this potentially lethal syndrome."

From 1999 to 2002, 147 individuals, ages 8-59, had an epin

Contact: Traci Klein
Mayo Clinic

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