Congenital heart defect (CHD) is a heart condition that a baby has at birth. When the baby is in the womb, there is an abnormal formation of the heart. There is not a known reason for a CHD. There are some factors that may contribute to this abnormality. There could be a link between an abnormality in the number of chromosomes a baby has and this heart defect. It may be linked to a single gene defect or environmental factors. It could be many different factors combined that causes CHD.
Maternal factors could impact the baby’s heart while it is forming in the womb. It seems if a mother has an illness and takes medication in the early stages of pregnancy, it could impact the development of the baby’s heart. These factors do not seem to have as significant an impact later in the pregnancy. Some of the maternal illnesses that could impact the development of the heart include a seizure disorder, phenylketonuria, diabetes, lupus, or a connective tissue disorder. Some of these conditions require medication that may impact the development of the heart, including lithium, anti-seizure medication, and insulin. If a mother has rubella during pregnancy may also cause some heart defects in the baby.
Family history has an impact on the potential for CHD. There is an increased risk of CHD if there is a family member that has CHD. Depending upon the specific type of defect, there may be as much as a 50 percent chance that the baby will have that heart defect if the parent it. There is some testing that can occur during pregnancy that can determine if the baby will have a significant heart defect.
Chromosomes are the material inside the cells that carry genes. Genes carry the code for your traits, including features such as hair color and blood type. There are 46 chromosomes in every cell. If there are too little or too many chromosomes in each cell, it can lead to congenital disabilities and health concerns. When there are problems with chromosomes, it can lead to genetic syndromes such as Down syndrome or Williams syndrome, just to name a couple. These syndromes may cause an increased risk for heart problems.
Single gene defects occur when there is a change to one of the genes in a pair found in the cells. There are roughly 70,000 genes in the body, and a chance to just one of them may cause a health problem in the body. If you have a family history of heart defects or feel you need CHD Support, you may want to consider consulting a genetic counselor.