Sudden death from cardiovascular disease in children is linked with genetic disease
They've discovered how a genetic disease known mainly for life-threatening tumors also can cause sudden death in children, say U. S. and Canadian scientists.
They found the linkage can cause sudden death from cardiovascular disease in children, said the scientists from the Indiana University School of Medicine and the University of British Columbia.
They discovered mutation that causes neurofibromatosis type 1 disease leads to arterial inflammation and damage that's similar to the long-term damage that can occur as people age, the researchers further said.
Neurofibromatosis results from mutations in a gene called NF1, which causes tumors to form in the cells that make up the protective sheaths around nerves. In humans, NF1 mutations resulting in neurofibromatosis occur in one in 3,500 births, and that, said the researchers, make it the most common genetic disease in humans that results in a predisposition to cancer.
Cardiovascular disease in children with neurofibromatosis is a significant, but under-recognized, problem for which the patients are rarely tested, they further elaborated.
Dr. David Ingram, an Indiana School of Medicine associate professor of pediatrics and biochemistry, who led the study, said, "It's often a silent killer with no symptoms or warnings in advance of a catastrophic event -- the children present with a heart attack or stroke." (With Inputs from Agencies)