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10 Percent of Congenital Heart Disease Cases Are Caused by Spontaneous Genetic Mutations: Study

Update Date: May 13, 2013 10:05 AM EDT

Congenital heart disease is one of the most common abnormalities in babies, affecting nearly 1 percent of all newborns. Because it often occurs in infants without parents who had the condition or without siblings who have the condition, the common question that most new parents ask about it is "why?" Recent research indicates that spontaneous mutations in the DNA, ones that were not inherited from either parent, are responsible for as many as 10 percent of cases of congenital heart disease. While this knowledge may not prevent the condition from appearing, it may be able to spur better individualized treatment for children.

Researchers from Yale University School of Medicine, Harvard Medical School and Columbia University Medical Center conducted a study using 362 trios of parents without health problems and a child with a severe form of congenital heart disease. The children with congenital heart disease were also compared with 264 healthy baby controls. The researchers analyzed their genes using an advanced technique that is able to retrieve the sequences of all 22,000 human genes and the entire human genome at a single time.

The researchers found 30 genes out of 400 that may have an effect on congenital heart disease. They also found that healthy babies and babies with congenital heart disease have about the same number of de novo mutations, otherwise known as mutations that are not inherited. However, the children with congenital heart disease were more likely to carry the mutations in a cellular pathway where genes that dictate heart formation are held, Bloomberg Businessweek reports.

"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," Richard Lifton, a senior author of the paper, said to Science Codex.

Researchers plan on performing more studies with more families involved in an effort to learn more about the condition. However, what is already is clear is "that parents participating in these studies take comfort in learning that a congenital heart defect or another problem results from a cause that no one had any control over," said Dr. Bruce Gelb, another author of the study, said in a statement. "That is, it wasn't their fault or the fault of the medical care that they received."

The study was published in the journal Nature.

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