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Genetic Problems and Congenital Heart Defects

The cells that make up our body contain structures called chromosomes. There are 46 chromosomes in each cell of the body. Chromosomes contain genes. Each of the 46 chromosomes have about 70,000 genes. Genes are inherited from the parents, in pairs, one from the father and one from the mother. Genes carry codes for everything that we have in our body, including our skin, eye, hair color etc. Several abnormalities can happen in the body when even one single gene is mutated (changed). Too many chromosomes, too few chromosomes, broken or missing chromosomes, duplicated chromosomes can all cause serious health issues including congenital heart disease. When many health problems occur from one change in a gene, it is called a syndrome. Some syndromes which also cause heart disease include:

  • Down syndrome

  • Trisomy 18 or Edwards syndrome

  • Williams syndrome

  • Turners syndrome

  • Cri-du-chat syndrome

  • DiGeorge syndrome

  • Marfan syndrome

  • Smith-Lemli-Opitz syndrome

  • Ellis Van Creveld syndrome

  • Holt Oram syndrome

  • Noonan syndrome

  • Mucopolysaccharidoses

  • Alagille syndrome

  • In addition, the following syndromes also can cause heart defects, but the exact genetic cause of the defects are not clear at this time:

  • Goldenhar syndrome

  • Hemifacial Microsomia

  • Charge syndrome

  • Vacterl association

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