Defining New Paradigms for Arrhythmia and Sudden Cardiac Death in Children

Principal Investigator(s):

  • Peter Mohler, MD
  • The Ohio State University
  • Columbus, Ohio

Description of Work

Human ANK2 mutations result in severe cardiac electrical and structural abnormalities (e.g. potentially fatal ventricular arrhythmias) in children and young adults. Despite the clear link between human ANK2 mutations and potentially fatal cardiac phenotypes in children, essentially nothing is known regarding 1) how human ANK2 mutations affecting ankyrin-B function cause severe structural and electrical dysfunction in the developing heart, or 2) how ankyrin-B expression is regulated in humans. The proposed research will combine a host of synergistic approaches and a newly generated animal model of ankyrin-B (ANK2) deficiency to define the cause of fatal congenital cardiac phenotypes in children with ankyrin-B mutations. We anticipate that the new information gained through the Saving tiny Hearts Foundation will deliver critical new insight into our understanding of potentially fatal cardiac arrhythmia in children, as well as provide a necessary first step for developing improved diagnostics, as well as therapies for regulating cardiac function in common forms of pediatric heart disease.