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Sudden Death from Heart Dysfunction
Reducing deaths from silent, asymptomatic heart conditions

For many people, the first sign they have Long Q-T Syndrome (LQTS)—a rare, inherited disorder of the heart's electrical system—is sudden arrhythmia and death.

If the disorder is caught early, therapies can be given to prevent sudden death. But in animal studies, Columbia researchers have found that the most common treatment may be dangerous to some patients. The danger arises from the type of mutation the patient harbors. LQTS can be caused by a mutation in five different genes, but it is difficult to distinguish among the five through clinical symptoms alone.

Led by Dr. Robert S. Kass, chair of the Department of Pharmacology, Dr. Andrew Marks, chair of the Department of Physiology and director of the Center for Molecular Cardiology, and Dr. Steven O. Marx, assistant professor of medicine, the researchers found that treatments that are effective for one mutation are often ineffective, and even dangerous, in patients with other mutations, even though the clinical symptoms of the disease are identical.

The discovery highlights the importance of knowing exactly what form of LQTS a patient has, so that treatment may be individualized based upon that form's genetic profile. Dr. Kass and his team have named this type of treatment "gene-targeted pharmacology".

The team has developed individualized treatments, currently in clinical trials, that are geared to each specific mutation. If the various treatments prove to be effective, Columbia's research will have made an enormous contribution to saving the lives of many young people at risk for sudden, tragic death.

"Genetic screening of LQTS patients is very important," said Dr. Kass. Columbia is currently developing a service that would perform genetic evaluations of New York City's entire population.

"This will be the first time that genetic testing could be made available for LQTS in New York City," said Dr. Kass. "Obviously, this is critically important to parents who have a child with this disorder. Our goal is to eventually make it more accessible and convenient so that those at risk for LQTS may be properly genotyped in order to diagnose the genetic basis of the disorder and personalize therapy."
© 2005 Columbia University