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Cyanotic Congenital Disease

Cyanotic congenital heart disease (CCHD) refers to a group of many different heart defects that result in a low blood oxygen level. 

Cyanosis refers to a bluish colour of the skin and mucous membranes. This often occurs in the lips, toes or fingers.

  • Blue lips, toes, or fingertips and palms.
  • Difficulty breathing, especially after physical activity.

Additionally, some children experience spells during which their oxygen levels are very low. As a result, they get anxious, which results in blue skin, and they may hyperventilate.


In many cases, genetics will play a role in a CCHD diagnosis. 

  • Family history. An infant is more at risk for CCHD when there’s a family history of congenital heart diseases. 
  • Genetic syndromes. Certain syndromes, such as down syndrome, can be accompanied by defects that cause CCHD.

In some instances, external factors can cause CCHD. 

  • Toxic chemicals or drugs during pregnancy. If a pregnant woman is exposed to toxic chemicals or certain drugs, it can negatively affect her infant's heart development.
  • Infections during pregnancy. This can play a role in an infant developing CCHD.
  • Gestational diabetes. Poorly controlled gestational diabetes can lead to a higher risk of an infant developing CCHD.