Scientists have identified a previously unknown cellular communication mechanism that may help explain why some babies develop congenital heart defects, revealing how genetic changes can disrupt heart formation during early pregnancy.
The study, conducted by researchers at the University of Copenhagen, focuses on tiny structures on the surface of cells that act like microscopic “antennae.” Scientists found that these structures help cells communicate during embryonic development, including as heart tissue forms.
When genetic mutations interfere with this communication system, cells may receive the wrong developmental signals. As a result, tissues can develop incorrectly or fail to form in the right way, potentially causing structural abnormalities in the heart.
The findings may also help explain why some children with congenital heart disease have abnormalities affecting other organs, including the brain, kidneys, and skeleton.
Congenital heart disease is among the most common types of birth defects, affecting about 1% of live births worldwide.
Congenital heart disease can occur as part of a broader genetic condition, known as syndromic congenital heart disease, or appear without other major abnormalities, known as non-syndromic congenital heart disease.
The new findings do not provide an immediate treatment or cure. However, researchers say a clearer understanding of the cellular and genetic causes could eventually support better prenatal screening and the development of more targeted treatments.
Some types of congenital heart defects in children can be repaired using thin, flexible tubes called catheters. Such treatments let doctors fix the heart without open-heart surgery. The doctor inserts a catheter through a blood vessel, usually in the groin, and guides it to the heart. Sometimes more than one catheter is used.
Once in place, the doctor threads tiny tools through the catheter to correct the heart condition. For example, the surgeon may fix holes in the heart or areas of narrowing. Some catheter treatments have to be done in steps over a period of years.
Medicines may be used to treat symptoms or complications of a congenital heart defect. They may be used alone or with other treatments. Scientists are continuing to investigate how these cellular communication pathways influence human development and whether the discoveries can eventually be translated into clinical care.
