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Aurora magazine

Congenital heart disease is the result of three genetic mutations

Congenital heart disease affects about 1% of newborns. Sufferers must undergo numerous operations and undergo pharmacological treatments throughout their lives. In some cases, even a heart transplant is needed. Despite the occurrence and the many efforts to get more and more severely diagnosed, for many patients the cause of the disease is still a mystery.

According to this study, the reason is that there are more genes involved. Researchers from the Gladstone Institute and the University of California have identified three genetic variants related to the disease, all hereditary. In the families in which they occur, there are multiple cases of heart disease even at a young age. It is therefore probable that the fault of the pathology is not of a single mutation, but of so many masses.

Everything starts from the study of a family with numerous cases of congenital heart disease. One of the couple's children had just survived a delicate left ventricular surgery. The spouses already had a child with a similar illness and had suffered an abortion in the first trimester. The researchers then analyzed the hearts of the two parents: the mother was healthy, while the father had a very mild version of the child's condition. From these observations, the researchers sequenced the DNA of all family members.

They discovered that the father was a carrier of two mutated genes, MKL2 and MYH7, both linked to a greater risk of heart disease. The children inherited both mutations from the father and a third from the mother, the one on the NKX2-5 gene. All three together, the mutations caused the onset of the disease.