Seema Mital, MD, FACC

RAAS Gene Polymorphisms Influence Cardiac Remodeling in Children with Hypertrophic Cardiomyopathy
Children's Hospital of New York-Presybyterian, New York, NY
Seema Mital, MD, FACC – $25,000

The body produces several hormones that help to maintain blood pressure e.g. angiotensin, aldosterone. When produced in excessive amounts, these can act directly on heart muscle and cause it to thicken and lead to heart to fail over time. The production of these hormones are controlled by several genes. Variations in these genes called polymorphisms can increase the production of these hormones. This study investigates if children with hypertrophic cardiomyopathy (HCM) who have more of these polymorphisms are at higher risk for the disease becoming severe compared to children with fewer of these polymorphisms. 23 children with HCM will be studied and heart muscle thickness will be measured using echocardiography i.e. ultrasound of the heart, at each visit. The goal of the study is to show that the heart gets thicker much faster in children with more than two polymorphisms compared to those with less than two polymorphisms. The significance is that physicians will be able to identify which children with HCM are at higher risk for getting a severe form of the disease and therefore require closer monitoring. It may also help to segment which family members with the same disease are likely to do better or worse depending on the number of these polymorphisms. In many cases, it may be possible to adjust treatment according to these polymorphisms enabling physicians to better manage children with this disease in the long term.