Kathy Hodgkinson, PhD
Informing Diagnostic and Prognostic Information For Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 (ARVD5) In Children By Comprehensive Clinical and Genetic Analysis
Memorial University of Newfoundland, NL, Canada
2011 Amount Awarded – $49,645
ARVC is an autosomal dominant cause of sudden cardiac death (SCD) in young people due to ventricular tachyarrhythmias, heart failure and structural anomalies of both ventricles. Many families in Newfoundland, the Eastern most province in Canada, have a genetic subtype known as ARVD5, which can cause sudden cardiac death (SCD)) due to a mutation in the TMEM43 gene. Although all adults with this mutation will show some sign of ARVD5 in their lifespan, it is not known who will develop the lethal form of the disease, what the early effects on children are and whether the prognosis can be altered by this understanding. This study will look at a homogenous population and determine how the presence of the TMEM43 mutation clinically affects those under 18 years. By studying children under 18 years in Newfoundland who have a family history of the disease and are at risk of ARVD5, it can be determined which individuals are at greater risk of negative outcomes. The study will involve following children annually with routine cardiac clinical tests and adding two additional diagnostic tests using signal averaged ECG and tissue Doppler imaging of the RV and LV outflow tract. The information from this study will have clinical significance to those families facing the effects of the disease and determining treatment.