Blue Baby Syndrome: Causes, Symptoms, Treatment & Prevention

A symptom that presents itself as the core temperature of your baby drops.

Medically reviewed by Dr. Hina Patel Desai, MBBS, DCH, DNB Dr. Hina Patel Desai Dr. Hina Patel DesaiMBBS, DCH, DNB Specialty: PediatricsExperience: 17 years
Written by Dr Bisny T. Joseph
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Blue Baby Syndrome Causes, Symptoms, Treatment And Prevention

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Blue baby syndrome comprises a group of disorders that affects the blood’s ability to carry oxygen, causing the skin to turn bluish. The lips, earlobes, and nail beds are the areas where the color is most evident. Other symptoms such as shortness of breath and poor growth may also emerge depending on the specific condition that affects the infant. If your baby has cyanosis, you should seek the help of a medical professional.

Keep reading this post to learn more about the causes, symptoms, diagnosis, and treatment of blue baby syndrome.

What Causes Blue Baby Syndrome?

Cyanosis in children has to be interpreted in terms of at what age it started, the area affected and whether it is persistent or not.

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

Children less than six months of age:

  • Hypothermia i.e., if babies are getting colder
  • Cyanotic heart disease
  • Serious and uncommon diseases related to lungs, brain, and metabolism

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 – meaning mixes the good oxygenated blood with bad unoxygenated blood inside the heart and so, impure blood circulates in body. 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.

Less than six months old babies as well as older children can have some other reasons to get cyanosis. Some are good to know in detail.

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.

4. Breath-holding spells

The child holds breath and progresses towards cyanosis at the end, however it is a benign condition and recovers soon without intervention. Though look frightening, it is completely benign.

Signs And Symptoms Of Blue Baby Syndrome

Bluish color of the skin around the mouth, hands, and feet is generally seen in all cases.

Generally, cyanosis due to hypothermia is mainly at hands and feets and due to heart disease is around the mouth. The bluish coloration can happen within hours to days after birth if it is due to heart disease. It 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).

  • Pulse oximetry to measure oxygen saturation in the blood. Usually it will be checked in the hospital or at the doctor’s clinic itself to know if the blood oxygen levels are low.
  • Blood tests as per diagnosis suspected
  • Chest x-ray
  • Echocardiogram and electrocardiogram of the heart
  • Blood gas analysis
  • Methylene test, if nitrate poisoning suspected
  • Genetic testing, if congenital disease suspected

How Is Blue Baby Syndrome Treated?

Treatment for the blue baby syndrome is based entirely on diagnosis found. As they are very diverse causes, treatment differs very largely.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.
  1. Breath-holding spells need only some vitamin supplements and behavioral management advice to parents.

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.

Frequently Asked Questions

1. Do blue babies survive?

Depending on the specific cause of the condition, the survival rate for blue babies might vary. For instance, research shows that the survival of blue babies with congenital hearts is “reasonably good (14).” On the other hand, babies with type 2 autosomal recessive congenital methemoglobinemia often don’t survive beyond early adulthood (15).

2. How common is the blue baby syndrome?

Blue baby syndrome is an uncommon condition that can occur due to congenital heart defects, environmental factors (nitrate exposure), and genetic factors.

3. What blood type causes blue baby syndrome?

The blue baby syndrome occurs due to reduced hemoglobin in the baby’s blood. No research studies or clinical trials were found that can show that blue baby syndrome is linked to a specific blood group or blood type.

The baby blue syndrome is when the baby’s skin turns blue because of low oxygen levels in the blood. The treatment may be short-term, leading to a complete cure, or long-term, depending on the severity of the causative condition. Although the blue baby syndrome is not entirely preventable, avoiding nitrate-containing food or drinks and exposure to toxic substances during pregnancy can help reduce the risk. Moreover, stay alert to your baby’s condition and look out for the prominent symptoms to seek timely treatment and prevent the condition from worsening.

Key Pointers

  • Blue baby syndrome or cyanosis in newborns can be caused by hypothermia, cyanotic heart disease, and other disorders.
  • Hypothermia causes cyanosis in the hands and feet, while heart disease causes it around the mouth.
  • If you see a bluish coloring of your baby’s skin, consult a doctor immediately.
  • Treatment options vary for cyanosis in babies depending on the underlying cause.

References

1. Zierler S.; Maternal drugs and congenital heart disease.; The United States National Library of Medicine
2. Cyanotic heart disease; The United States National Library of Medicine
3. Health Concerns Related to Nitrate and Nitrite in Private Well Water; Environmental Health Investigations Branch; California Department of Health Services
4. Water-related diseases; Methaemoglobinemia; The World Health Organization
5. L Knobeloch, et al.; Blue babies and nitrate-contaminated well water.; The United States National Library of Medicine
6. Methemoglobinemia; The United States National Library of Medicine
7. Habib Ur Rehman and Specialist registrar; Methemoglobinemia; The United States National Library of Medicine
8. Autosomal recessive congenital methemoglobinemia; The United States National Library of Medicine
9. Hereditary methemoglobinemia; The National Center for Advancing Translational Sciences; Genetic and Rare Diseases Information Center
10. Symptoms that Might Indicate a Heart Problem; The Children’s Hospital of Philadelphia
11. Maria M. Ossa Galvis and Magda D. Mendez.; Cyanotic Heart Disease; The United States National Library of Medicine
12. Nitrate in Drinking Water; The Washington State Department of Health
13. Nitrates, blue baby syndrome, and drinking water: A Factsheet for Families; Pediatric Environmental Health Specialty Unit (PEHSU)
14. Good survival of ‘blue babies,’ children with congenital heart defects; Science Daily
15. Autosomal recessive congenital methemoglobinemia; Medline Plus
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Dr. Hina Patel Desai
Dr. Hina Patel DesaiDCH, DNB
Dr. Hina Patel Desai is a Pediatrician with a private practice in Surat, Gujarat. She did Diploma in Child Health (DCH) from the Government Medical College, Surat, in 2004 and DNB - Pediatrics from the National Board of Examinations in 2010.

Read full bio of Dr. Hina Patel Desai
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