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Newly discovered mutation behind sudden cardiac death

The discovery by researchers at Linköping University of a previously unknown genetic mutation could contribute to preventing sudden cardiac death among young athletes.

Meriam.The inherited disorder ARVC, which affects the right ventricle of the heart, can strike without warning. It is a common cause of death for the five to ten young people in Sweden who die every year during hard training or competitions.

Some of them could have been saved if more sensitive diagnostics were available, with genetic testing and better methods for imaging and study of heart function.

Meriam Åström Aneq, chief physician and doctoral student in clinical physiology, is following along with a cardio genetic group of some 40 patients and their families with genetic screening and supervising the course of the disease. In collaboration with technicians, she has developed methods for better study of the right ventricle using MRI and ultrasound. The results are set forth in her doctoral thesis.

Aneq and her research group tested a family whose 18-year-old son died from sudden cardiac death, and a previously unknown mutation in the PKP2 gene was discovered. The man was an active athlete and had no known heart disease. The gene was found in his family; as far back as three generations, where some carriers had signs of the disease and others didn’t.

ARVC, or arrhythmogenic right ventricular cardiomyopathy, is a condition where heart cells die and are replaced by fat and connective tissue, which means that the pumping function in the right ventricle gradually degenerates. Sudden death can affect people who had no signs of the disease whatsoever, while others show symptoms such as palpitations during exertion, or feeling faint or dizzy.

“The most effective treatment is to cease excessive training. Beta-blockers can also be administered, and in serious cases a small defibrillator can be inserted under the skin. This kind of thing saves many lives,” Aneq says.

She hopes that ARVC will become better known in health care, so that the measures can be taken as early as possible. Both genetic testing and careful heart screening with ultrasound and MRI are needed for diagnosis, patient follow-up, and deciding on suitable treatment.

Text: Åke Hjelm

Dissertation: Arrhythmogenic right ventricular cardiomyopathy - is it right?
Defence Friday, October 7 at 13:00 in the Auditorium, Health House, Campus U.S., Linköping. The opponent is Assistant Professor Maria Eriksson, Karolinska Institute.




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Last updated: 2012-12-10