Cyanotic Congenital Disease (CCHD)
Cyanotic congenital heart disease (CCHD) refers to a group of many different heart defects that result in a low blood oxygen level.
Congenital heart disease can be split into two categories – cyanotic congenital heart disease and acyanotic congenital heart disease.
Cyanotic congenital heart disease includes heart defects that reduce how much oxygen is delivered to the body. When a baby is born with CCHD, they experience cyanosis –Â a bluish colour of the skin and mucous membranes. This often occurs in the lips, toes or fingers.
Types of CCHD:
There are three distinct categories of CCHD:
Left heart obstructive lesions: Left heart obstructive lesions reduce blood flow between your heart and rest of your body (called systemic flow). Conditions that fall under this banner include:
- Hypoplastic left heart syndrome
- Interrupted aortic arch
Right heart obstructive lesions: Right heart obstructive lesions reduce blood flow between your heart and lungs (called pulmonary flow). Conditions that fall under this banner include:
- Pulmonary atresia
- Tricuspid atresia
- Tetralogy of Fallot
Mixing lesions: This type of CCHD cause your body to mix pulmonary and systemic blood flow. Conditions that fall under this banner include:
- Transposition of the great arteries
- Total anomalous pulmonary venous return
- Truncus arteriosus
What are the symptoms of CCHD?
- Blue lips, toes, or fingertips and palms.
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.
What causes CCHD?
- 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.
What kinds of treatment options are there?
Most babies with CCHD will need treatment to survive, including:
- Oxygen therapy, which provides higher levels of oxygen than normal room air would.
- Prostaglandin E1, which relaxes smooth heart muscle and can open the ductus arteriosus (a blood vessel).
- Surgery to repair defects or redirect blood flow.

