Crouzon Syndrome & Congenital Heart Disease

Crouzon Syndrome, also known as Crouzon's Syndrome, may have some relationship to congenital heart disease. The genetic flaw that causes malformed skull and facial bones in newborns and children may be contained on the same genes that regulate the development of the heart muscle during the baby's development in the womb. While not all congenital heart disease is caused by genetics, people with Crouzon Syndrome may benefit from cardiac examinations.

Crouzon Syndrome

• Crouzon Syndrome causes a condition called craniosynostosis in which the bones that form that skull fuse together prematurely. Children born with Crouzon Syndrome tend to have bulging, wide-set eyes, a prominent lower jaw, and a small, distinctively pointed nose. They may also suffer from hearing problems. Some of the children display these symptoms at birth, while others develop them over the first few years as the skull and facial bones grow.

Causes of Crouzon Syndrome

• Crouzon Syndrome results from faulty information on two specific genes called fibroblast growth factor receptor genes (FGFR). A child can inherit this faulty gene, or the gene may simply mutate (change) on its own. Since the gene must be present in only one the parents to pass it on to the child, sufferers from Crouzon Syndrome face a 50 percent chance of their children carrying the same mutation.

Congenital Heart Disease

• Congenital heart disease refers to any abnormal heart condition present at birth. As a bay forms in the womb, his heart develops from a simple tube-like structure into the familiar four-chambered muscle. According to the Mayo Clinic, heart defects tend to occur between 22 to 28 days after conception. Congenital heart problems may go undiscovered or uncorrected for many years. Even if the condition responds to treatment in childhood, it may grow worse later in life, requiring further medical attention.

Causes of Congenital Heart Disease

• The reasons for such defects, while imperfectly understood, seem to include genetics, the mother's health, or the presence of certain medications in the bloodstream. Down's Syndrome patients often have defective hearts, as do those who lack complete genetic "programming" on their 22nd chromosome. Expectant mothers with a history of diabetes or German measles, or who use alcohol, the anti-depressant lithium, or the acne medication Accutane, may risk passing heart defects on to their children.

Possible Connection

• While researchers have not proven a connection between Crouzon Syndrome and congenital heart disease, some case studies indicate that such a connection may exist. The German Heart Center reported that research on animals shows some indication that the FGFR genes that affect Crouzon Syndrome may also play a role in heart development. The same report gave the example of a woman with Crouzon Syndrome who required surgery to close a congenital heart defect, and recommended that sufferers from the syndrome should receive heart examinations.