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Causes
The exact cause of any one congenital heart defect is rarely identified. However, most experts believe that abnormal genes coupled with environmental factors experienced during early pregnancy lead to congenital heart defects.
The heart is one of the first organs to develop in the fetus. At approximately three weeks of gestation, a tiny tube is formed and the fetal heart begins to beat. During the next few days, the tube begins to bend and fold in on itself, forming a loop that roughly takes the shape of the heart. By the 18th week of pregnancy, this tiny tube has molded into all of the basic structures of the heart. It's possible for physicians to detect some heart defects by the 18th week of pregnancy.
Genes contain the sets of instructions that guide the process of development. If these instructions are jumbled, the heart will fail to develop normally. For example, if the instructions for developing the aortic valve are incorrect, the valve may be absent altogether, as in aortic valve atresia, or misshapen, as in aortic valve stenosis.
Scientists are on the verge of discovering the genes that are associated with numerous heart defects. Currently, more than 100 mutations in several genes have been linked with congenital heart defects. Most of these genetic links are associated with hypertrophic cardiomyopathy, but other genetic mutations have been linked to septal defects and defects in the outflow path from the heart.
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