There are about 70,000 genes on the 46 chromosomes in each cell of the body. Genes come
in pairs. In each paid, 1 gene is inherited from the mother, and the other from the
father. Genes help to control our traits. And they also may cause health problems due to
gene changes (mutations). When a single gene is changed, a number of health problems may
occur. When several health problems occur from 1 genetic cause, it’s called a syndrome.
Some of the genetic syndromes that have a higher rate of heart defects include:
Other genetic syndromes that are not due to a single gene defect, but are associated
with CHD. These include:
- Goldenhar syndrome (hemifacial microsomia)
- CHARGE syndrome
- VACTERL association
a child is born with a CHD and may have a genetic syndrome, a doctor who specializes in
genetics (clinical geneticist) may be asked to examine and test your child.
child has been diagnosed with a chromosomal or other genetic problem, talk with a
genetic counselor to help determine the risk for heart defects in future children.