Blue Baby Syndrome: Causes, Symptoms, Treatment And Prevention

Blue Baby Syndrome Causes, Symptoms, Treatment And Prevention

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Blue baby syndrome is a group of conditions where the blood has decreased ability to carry oxygen, thus resulting in a bluish coloration of the skin. The color is most noticeable on the lips, earlobes, and nail beds. It is recommended to seek medical attention if your baby has cyanosis.

Read this MomJunction post to know more about the causes, symptoms, diagnosis, and treatment of the blue baby syndrome.

What Causes Blue Baby Syndrome?

The following conditions may cause bluish discoloration of the skin in babies:

1. Cyanotic heart disease

Cyanotic heart disease includes any type of structural heart defect that causes the shunting of blood from the right to the left side of the heart. It eventually leads to low blood oxygen levels and blue baby syndrome.

Uncontrolled diabetes, drug use, and certain medications during pregnancy are found to increase the risk of heart defects in a baby (1). It can also be due to genetic conditions such as Down syndrome.
The following types of cyanotic heart diseases may cause blue baby syndrome (2).

  • Patent truncus arteriosus (PTA): This rare congenital heart defect occurs due to the failure of the division of the major blood vessel of the heart.
  • Transposition of the great vessels: It is a heart defect where the position of aorta and pulmonary artery are interchanged.
  • Tricuspid atresia: Deformation of the valve between the right chambers of heart, resulting in backflow of blood.
  • Tetralogy of fallot:It is a combination of four congenital structural anomalies of the heart, including stenosis of the pulmonary valve, a hypertrophied right ventricle, development of an aorta that communicates with both the ventricles, and ventricular wall defect.
  • Anomalous pulmonary venous connection: The pulmonary veins that bring blood from lungs to heart do not attach properly to the heart.

2. Acquired methemoglobinemia

It occurs due to nitrate or nitrite poisoning and is common in babies less than six months old. Underdeveloped fecal organisms in babies convert nitrate to nitrite in the gastrointestinal tract. Nitrates are not toxic to the body but if converted into nitrite, it may lead to blue baby syndrome. Nitrate and nitrite convert hemoglobin to methemoglobin, which cannot carry oxygen. It leads to low blood oxygen levels and blue baby syndrome (3).

Babies may get nitrate from the following sources (4).

  • Infant formula mixed with well water or contaminated groundwater (5)
  • Drinking water
  • Exposure to chemicals containing nitrate
  • Exposure to certain drugs such as dapsone, chloroquine, nitrobenzene, and benzocaine (6)

3. Hereditary methemoglobinemia

It is also known as autosomal recessive congenital methemoglobinemia. It is rare, and often runs in families. The problem arises with genes that regulate the production of an enzyme called reduced nicotinamide adenine dinucleotide (medically called NADH) (7). A deficiency of the enzyme leads to poor blood oxygen levels and blue baby syndrome.

Hereditary methemoglobinemia can be divided into two types (6) (8) (9):

Type I: It is characterized by only cyanosis and symptoms related to oxygen deficiency, such as weakness and shortness of breath.
Type II: It causes cyanosis and neurological dysfunctions such as brain damage, uncontrolled muscle tensing, involuntary limb movements, microcephaly (small size of the head), and developmental delays.

Signs And Symptoms Of Blue Baby Syndrome

Bluish color of the skin around the mouth, hands, and feet is generally seen in all cases. This can happen within hours to days after birth. The bluish coloration may also be constant or occur in temporary episodes.

Babies with blue baby syndrome due to cyanotic heart disease also show the following symptoms (2) (10).

  • Shortness of breath
  • Rapid breathing
  • Fainting (loss of consciousness)
  • Clubbing of fingers or toes (round shape nail bed)
  • Poor growth
  • Going out of breath during feeds
  • Getting sweaty while feeding
  • Bluish coloration of gums and tongue
  • Abnormal heart sounds

Methemoglobinemia can cause a slate-like gray or bluish-gray appearance of the skin. Babies with any form of methemoglobinemia will also display the following symptoms (6):

  • Loss of muscular strength
  • Dizziness
  • Drowsiness
  • Shortness of breath
  • Diarrhea
  • Lethargy
  • Stupor (impaired reflexes)
  • Increase in the production of saliva
  • Loss of consciousness
  • Seizures

When To See A Doctor?

See a doctor promptly if you notice a bluish coloration of your baby’s skin. Sometimes, the color may not be easily noticeable. In such cases, take the baby to a doctor if they have the following symptoms (2).

  • Shortness of breath
  • Fainting
  • Seizures
  • Weakness
  • Irritability
    Diagnosis Of The Blue Baby Syndrome

Your doctor will ask for health history and symptoms. The physical examination can determine cyanosis and abnormal heartbeats. The doctor will recommend the following tests to confirm the diagnosis (2) (11).

  • Blood tests
  • Pulse oximetry to measure oxygen saturation in the blood
  • Chest x-ray
  • Echocardiogram and electrocardiogram of the heart
  • Cardiac catheterization to check the heart
  • Genetic testing

How Is Blue Baby Syndrome Treated?

Treatment for the blue baby syndrome is based on the severity of symptoms and the cause of the bluish appearance of skin. The following treatment methods are likely to be used (11).

  1. Medication and oxygen therapy for heart defects: Medicines help the heart work better and might reduce the effects of a heart defect. The baby may also be administered oxygen to improve blood oxygen levels.
  1. Heart surgery: It can rectify heart defects. The baby might require a surgery immediately or at a later age or both depending on the type of heart defect.
  1. Medication for methemoglobinemia: Some medicines, like methylene blue, can reduce the effects of methemoglobinemia and improve the oxygen-carrying capacity of the blood.
  1. Nutrient supplementation: Supplementation with vitamins, especially vitamin C or ascorbic acid, might help reduce the effects of nitrate and nitrite.
  1. Blood transfusion: If blood methemoglobin levels are very high, then the doctor might suggest transfusing oxygenated blood.

Methemoglobinemia due to genetic defects might not be curable and could require lifelong management.

Can You Prevent Blue Baby Syndrome?

It is not possible to entirely prevent the blue baby syndrome. But some precautions during pregnancy and after childbirth might reduce the risk of the condition (4) (12) (13).

  • Use treated drinking water for drinking and preparing baby formula. Distilled water is safe but boiling does not remove nitrates from water.
  • If you use well water or groundwater, then get it tested for the presence of nitrate and nitrite.
  • Limit the use of nitrate-rich foods such as spinach and beets
  • Avoid alcohol, smoking, narcotics, and OTC medications during pregnancy. These substances might increase the risk of birth defects, including heart defects, which is one of the causes of blue baby syndrome.
  • You could consider breastfeeding over formula feeding, if you have an option. Adults break down nitrates in the body, and thus it is safe to breastfeed.

Blue baby syndrome could be cured or require long term management. In either case, the prognosis becomes better as the baby grows older. Conditions such as methemoglobinemia often cure on their own as the baby’s body becomes adept at handling nitrate and nitrite. Staying alert to changes in skin color and other symptoms can help in early diagnosis and timely treatment of the blue baby syndrome.

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