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Researchers identify the genotype of disorders causing cardiac sudden death syndrome
Date:2/9/2011

This release is available in Spanish.

Researchers from the Hospital Virgen de las Nieves of the University of Granada have identified the most frequent mutations in the gene KCNH2 in patients with long QT syndrome.

Long Qt syndrome is a disorder of cardiac ionic channels that approximately affects one in every 2,500 people and may cause torsade de pointes episodes, which can trigger sudden death. This condition usually affects children and adolescents, and it is occasionally mistaken for convulsions, leading to a misdiagnosis of epilepsy.

So far, hundreds of mutations have been found in twelve genes of sodium and potassium channels. Thus, approximately 75% of the mutations in cases of LQTS are located in three genes: KCNQ1, the most frequent in other sectors of the population (potassium channel), KCNH2 (potassium channel) and SCN5A (sodium channel).

To carry out this study, researchers selected nine patients who met the diagnostic criteria for long QT syndrome, and four patients with ventricular fibrillation (cardiac arrest produced in the absence of any identifiable causes). These patients and their first-degree relatives were examined in the Arrhythmia Assessment Unit of the Hospital Virgen de las Nieves in Granada, Spain.

Genetic Study

Mutations were found in seven patients with long QT syndrome and in two patients with idiopathic ventricular fibrillation. Overall, 71.4% of mutations were in the gene KCNH2 and 28.6% were in SCN5A. No mutations were found in the gene KCNQ1. Only two mutations had been previously observed.

In fact, one of these mutations was studied in vitro, and their involvement in the etiology of the disease was definitely proved, which is a major contribution to this field of research (see picture). This test was conducted with the collaboration of the De
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Contact: Juan Jimnez Jimez
jimenez.jaimez@gmail.com
University of Granada
Source:Eurekalert

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