Blue baby syndrome is a condition characterized by the bluish discoloration of the skin seen in newborns. Blue baby syndrome manifests as soon as the child is born or within the first few days of life. This syndrome is usually caused by a group of congenital heart diseases, called cyanotic congenital heart disease. In most cases, the patient is born with a structural defect or abnormality in the heart that prevents oxygenated blood from reaching the skin of the patient. In these patients, carbon dioxide, which is a bluish gas, builds up in the patient's skin, causing a bluish discoloration.
Tetralogy of Fallot
One of the more common causes of blue baby syndrome is the Tetralogy of Fallot, or ToF, according to the Canadian Medical Association Journal. ToF is a type of cyanotic heart disease that affects multiple areas of the heart. This disease is composed of four specific structural abnormalities that prevent the heart from sending large amounts of oxygenated blood to the rest of the body. The structural abnormalities include narrowing of the aortic valve, improper placement of the aorta, a hole between the right and left side of the heart and enlargement of the right side of the heart. All of these genetic defects combine to decrease the heart's ability to function properly. Patients with ToF will develop cyanosis, or bluish discoloration of the skin, a heart murmur and an inability to exercise. The cyanosis begins at birth and worsens as the patient ages.
Transposition of the Great Arteries
Transposition of the great arteries is a defect that occurs when the aorta, the largest artery in the body, arises from the right ventricle and the artery that leads to the lungs, the pulmonic artery, comes from the left ventricle, according to Cedars-Sinai Medical Center. This placement of the arteries is opposite of what happens in the normal heart. This results in the heart being unable to provide enough oxygen to the body. Transposition of the great arteries makes up 5 to 7 percent of congenital heart defect cases.
Truncus Arteriosus
Blue baby syndrome can be cause by a disease termed truncus arteriosus, according to the New York Times Health Guide. This is a rare cyanotic congenital heart defect in which a single large blood vessel, called a truncus arteriosus, emerges from both ventricles of the heart, instead of the normal two arteries. This single common vessel causes both oxygenated and deoxygenated blood to mix. Some of the blood goes to the lungs, and the rest goes to the other organs. If deoxygenated blood reaches tissues, they start to turn blue. Symptoms of this disease include bluish skin, or cyanosis, delayed growth of the baby, lethargy, poor feeding, rapid breathing and shortness of breath.


