We've all heard the stories of a young, seemingly healthy, teen athlete collapsing of a heart attack. Dr. Jeffrey Towbin, professor of pediatrics at Baylor College of Medicine and chief of pediatric cardiology at Texas Children's Hospital says he's found a disease gene in the right ventricle of the heart that is one of the leading causes of sudden cardiac death in young adults.
"We took mice and we engineered into the mouse model this specific human mutation. And you have to ask the question then 'will you now have a mouse that has Arrhythmogenic Right Ventricular Cardiomyopathy?' and to make a long story short, the answer to that is 'yes.'"
The discovery that this disease, known as ARVC results in genetic mutation means scientists can now look for ways to treat the gene or even prevent the mutation.
"Making diagnoses that can't help anybody isn't really the goal. The goal is to take it to the next step, prevent patients from having serious outcomes and maybe even treating the underlying problems for a reversal of the problem."
Laurie Johnson Houston Public Radio News.