Grant: Operating Grant

Long QT Syndrome (LQTS) is a hereditary conduction defect of the heart named for the region of the ECG noted to be prolonged in those affected, predisposing to an irregular heart rhythm which may lead to cardiac arrest and sudden death. Although usually rare the Gitxsan of Northern British Columbia, have a disproportionately high rate of this condition. Events can be avoided with medical management, appropriate health care and in particular, an avoidance of triggers such as a large number of medications which alter the QT interval increasing the risk. The genetics of the condition is complicated in that at least 12 known genes are responsible. As we embarked on our baseline study we had identified the novel mutation causing LQTS in the potassium channel gene, KCNQ1 and subsequently confirmed the pathogenesis. As a result of a community based research initiative, more than 40 community members have been identified with the mutation and another 240 community members have volunteered to participate in the research. The current study will focus on understanding the clinical impact of the condition by following our cohort for another 5 years for cardiac events, hearing loss and even diabetes which can result from mutations in this gene. We will explore the low rate of compliance of medical treatment (beta blockers), the low rate of participation of men in testing and the effect of having the condition during child birth and surgery. Furthermore, this study will build on our first study during which culturally integrated model of genetic counseling was developed. The current study will utilize that information to develop a community screening program for those who have not already had the opportunity to participate.