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Rhode Island Hospital studies uncover keys in sudden cardiac death
Date:1/17/2012

PROVIDENCE, R.I. Researchers in Rhode Island Hospital's Cardiovascular Research Center have published two new studies focusing on the causes of arrhythmia and sudden cardiac death (SCD) when a genetic disorder is present. The studies use a first-ever genetic animal model the researchers developed in 2008 to further their understanding of a genetic disorder known as Long QT Syndrome (LQTS). The first study identified differential conditions and cellular mechanisms that can trigger SCD when LQTS is a factor, and the second study, for the first time, directly links sex hormones and the incidence of arrhythmia and SCD. Their findings are published in the Journal of Physiology and the HeartRhythm Journal.

It is known that genetic mutations can predispose individuals to arrhythmia and/or SCD, a leading cause of death in the United States. Between one in 2,500 and one in 5,000 individuals are born with mutations that cause LQTS, a disorder of the heart's electric system, and a determining factor in the development of arrhythmia and/or SCD. Ninety percent of the known mutations cause loss of function of ion channels responsible for LQTS types 1 and 2 (LQT1 and LQT2).

LQTS leads to a prolonged "QT interval" on electrocardiograms. The QT interval refers to the time it takes the chambers of the heart to "repolarize" themselves so that the heart is ready for another contraction cycle. When this timeframe is lengthened, it is associated with triggering irregular arrhythmia that can cause sudden cardiac arrest.

In 2008, Gideon Koren, M.D., a physician researcher and director of the Cardiovascular Research Center at Rhode Island Hospital, and his colleagues developed a first-of-its-kind genetic rabbit model to study arrhythmia and SCD that mirrors what happens in individuals who have mutations of the LQT1 or LQT2 genes.

In a new study published in the
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Contact: Nancy Jean
njean@lifespan.org
Lifespan
Source:Eurekalert  

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