Shelley Miyamoto, MD, Carolyn Ho, MD, Kika Sucharov, PhD

Circulating MicroRNA in Genotype-Positive Hypertrophic Cardiomyopathy
University of Colorado, Denver, CO
Shelley Miyamoto, MD, Carolyn Ho, MD, Kika Sucharov, PhD – $50,000

Hypertrophic cardiomyopathy (HCM) is a form of heart muscle disease that causes sudden cardiac death in young people. Genetic testing has become an important part in the evaluation and diagnostic work up for patients with hypertrophic cardiomyopathy (HCM) and their family members. Not all people with a genetic mutation known to cause HCM (gene-positive) will go on to develop the disease. However, studies have demonstrated that gene-positive (G+) individuals who have not yet developed abnormal thickening of the heart muscle can have subtle abnormalities in heart function and may be at risk for forming scar tissue within their heart muscle. Therefore, reliance on identification of heart muscle thickening as the sole diagnostic factor for HCM may result in delayed diagnosis and missed opportunities to influence disease progression. MicroRNAs (miRNA, miRs) are small strands of nucleotides that can influence the expression of many genes throughout the human body. Recent studies demonstrated that miRs can be measured in the hearts and blood of children with various forms of heart disease. The purpose of this study is to characterize the circulating miR profile in the blood of patients known to have a HCM-related gene mutation. Gene-positive (G+) patients with and without a diagnosis of HCM based on the presence of thickened heart muscle will be included. The central hypothesis of this study is that the circulating miR expression profile will serve as a useful biomarker to assess the risk of gene-positive (G+) individuals developing HCM in the future.