Genetic Mutation Could Identify Individuals at Risk of Cardiovascular Death Among Patients with Rare Disease

The syndrome can manifest itself in many ways, including seizures, the inability to form words or phrases, and hearing problems. About one in four children with the syndrome also develop cardiovascular problems, including cardiomyopathy.  

Previous research suggests some patients who have 1p36 deletion syndrome lack a gene called PRDM16. This gene produces a protein that helps maintain the structure and function of heart cells and other body tissues. Without it, these individuals are more susceptible to cardiomyopathy.