Many Congenital Heart Defects are a Result of Unexpected Mutations

Many heart defects in children are due to new genetic mutations, a study has found. Researchers say that at least 10 percent of all congenital heart defects may not involve inherited mutations.

Congenital heart defect is any problem with the structure of the heart at birth. These defects can include problems with the walls, valves, arteries, etc. Congenital heart defects are the most common type of birth defects in the U.S. These defects affect 40,000 children, or about 1 percent of all births in the country.

The study team was led by researchers from Yale School of Medicine, who looked at genes of 1,800 people and found many genes that can lead to a heart defect.

Researchers found that most of these mutations occurred in genes that are associated histones, which are proteins that package DNA in the nucleus and govern the timing of gene activity important for the fetal development.

"These findings provide new insight into the causes of this common congenital disease. Most interestingly, the set of genes mutated in congenital heart disease unexpectedly overlapped with genes and pathways mutated in autism. These findings suggest there may be common pathways that underlie a wide range of common congenital diseases," said Dr. Richard Lifton, Sterling Professor and chair of the Department of Genetics, investigator for the Howard Hughes Medical Institute, and a senior author of the study.

The study is published in the journal Nature.