Jeffrey A. Towbin, MD

Identification of Mutations in Genes Associated with Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy
Baylor College of Medicine, Houston, TX
Jeffrey A. Towbin, MD – $92,250

A critical issue with cardiomyopathy in children is that a high percentage of the causative genes remain unknown and the mechanisms responsible for the phenotypes and the modifiers of disease severity are also poorly understood. The two key objectives of this research is to identify the genes responsible for the clinical phenotypes in children with cardiomyopathies, and 2) define the causative mechanisms involved in the development and maintenance of childhood cardiomyopathy. Using DNA sequencing, two hundred children will be screened for the 11 most common HCM genes and the 9 most common DCM genes. By obtaining cross -sectional data that identifies the type and location of mutations associated with pediatric cardiomyopathy, the study will be able to determine the applicability of adult data to pediatric patients, identify appropriate direction for new molecular work in children, and clarify the genotype-phenotype relationship. The study will also help physicians understand the role of genetic testing in evaluating patients with cardiomyopathy and provide guidelines for testing based on patient-specific characteristics.