Congenital Heart Disease or Congenital Heart Defect (CHD) is the most common type of birth defect. CHD results in structural abnormalities to the heart that originate during fetal development [1]. Specific abnormalities caused by CHD are often linked to three main areas of the heart: the interior walls, the valves, or the veins and arteries.
While there are many different types of CHD, most are non-life threatening. However, 8 in 1000 newborns are affected by CHD every year [x]. People who are born with complex, life-threatening CHD require advanced medical care that often continues throughout adulthood. In the U.S., more than 1 million adults have CHD [2]. |
During human development, the embryo undergoes several morphological changes that give rise to the four-chambered heart. Mutations in the NKX2-5 gene have been implicated in the process of abnormal heart formation in early fetal development [3]. The NKX2-5 gene is located on chromosome 5q35 and produces a homeobox transcription factor that plays a key role in heart formation [3, 4].
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