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Blue baby syndrome can refer to a number of conditions that affect oxygen transportation in the blood, resulting in blueness of the skin in babies. Historically, the term "blue baby syndrome" has referred to babies with:
- Cyanotic heart disease, which is a category of congenital heart defect that results in low levels of oxygen in the blood. This can be caused by either reduced blood flow to the lungs or mixing of oxygenated and deoxygenated blood.
- Methemoglobinemia, which is a disease defined by high levels of methemoglobin in the blood. Increased levels of methemoglobin prevent oxygen from being released into the tissues and result in hypoxia.
Both of these conditions cause cyanosis, or a bluish discoloration of skin or mucous membranes. Normally, oxygenated blood appears red and deoxygenated blood appears more blue. In babies with low levels of oxygen or mixing of oxygenated and deoxygenated blood, the blood can have a more blue or purple color, causing cyanosis.
Causes
Cyanotic heart disease[edit]
Specific types of congenital heart defects that cause blood to pass directly from the right side of the heart to the left side result in cyanosis[1]. In these defects, some of the blood that is pumped to the body has not been oxygenated by the lungs and therefore will appear more blue. Infants with these types of heart defects may have a bluish tint to their skin, or they may have temporary episodes of cyanosis. The degree of cyanosis is dependent on how much deoxygenated blood is mixed with oxygenated blood before being pumped to the body.
The five most common cyanotic heart defects that may result in Blue Baby Syndrome include:
- Persistent (or patent) truncus arteriosus
- Transposition of the great vessels
- Tricuspid atresia
- Tetralogy of Fallot
- Anomalous pulmonary venous connection
Methemoglobinemia[edit]
Blue baby syndrome can also be caused by methemoglobinemia, either due to a hereditary or acquired condition. Congenital methemoglobinemia is typically caused by a deficiency in the enzyme NADH-cytochrome b5 reductase, which is responsible for reducing methemoglobin in the blood.[2] Methemoglobinemia can be acquired in infancy from a number of exposures, including certain drugs or nitrates in drinking water.[3] Nitrate from polluted drinking water form compounds in the body that change haemoglobin to methemoglobin, decreasing the ability of blood to carry oxygen. In infants, the condition can be fatal. The sources of nitrate can include fertilizers used in agricultural lands, waste dumps or pit latrines. For example, cases of blue baby syndrome have been reported in villages in Romania and Bulgaria, and were thought to be caused by groundwater polluted by nitrate leaching from pit latrines. Nitrate levels are subject to monitoring to comply with drinking water quality standards in the United States and other countries. The link between blue baby syndrome and nitrates in drinking water is widely accepted, but some studies indicate that other contaminants, or dietary nitrate sources, may also play a role in the syndrome.
Other causes[edit]
Other problems in neonates, such as respiratory distress syndrome, can also produce temporary cyanosis. Like methemoglobinemia, these are not structural lesions and are not regarded by most doctors as true "cyanotic lesions."
Diagnosis
Symptoms of blue baby syndrome are often subtle. Cyanosis can be noted in babies around the lips, tongue, and sublingual area, where the skin is thinnest.[4] If cyanosis is suspected, pulse oximetry can used to measure oxygen saturation in the blood. While severe cyanosis can be easily noticed, an oxygen saturation as low as 80% causes only mild clinical cyanosis that is difficult to see.[5]
Babies with cyanosis due to congenital heart disease usually present with symptoms hours to days after birth. In addition to cyanosis, they often show signs of tachypnea (fast breathing), a heart murmur, and occasionally decreased peripheral pulses.[5][6] If congenital heart disease is expected in a newborn, doctors will likely perform several tests to evaluate the heart, including a chest x-ray, echocardiogram, and electrocardiogram.[7]
Babies with cyanosis due to methemoglobinemia also usually present with cyanosis in the neonatal period, but pulse oximetry may be falsely elevated and does not always reveal low blood oxygen saturation. A co-oximeter can be used to detect levels of methemoglobin in the blood if methemoglobinemia is suspected.[2]
Treatment
Treatment for blue baby syndrome will depend on the underlying cause.
Some babies born with cyanotic heart disease are treated with prostaglandin E1 after birth to keep the ductus arteriosus open and allow more oxygenated blood to be pumped to the body. Many also receive oxygen therapy to increase the percentage of oxygen in the blood. Most of these babies will require surgery during infancy to correct their structural heart defect.[6]
The first-line treatment for severe methemoglobinemia is methylene blue, a medication that will reduce methemoglobin in the blood.[2]
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- ^ Lin, Pei-Yi; Hagan, Katherine; Fenoglio, Angela; Grant, P. Ellen; Franceschini, Maria Angela (2016-05-16). "Reduced cerebral blood flow and oxygen metabolism in extremely preterm neonates with low-grade germinal matrix- intraventricular hemorrhage". Scientific Reports. 6. doi:10.1038/srep25903. ISSN 2045-2322. PMC 4867629. PMID 27181339.
- ^ a b c Da-Silva, Shonola S.; Sajan, Imran S.; Underwood, Joseph P. (2003-08-01). "Congenital Methemoglobinemia: A Rare Cause of Cyanosis in the Newborn—A Case Report". Pediatrics. 112 (2): e158–e161. doi:10.1542/peds.112.2.e158. ISSN 0031-4005. PMID 12897322.
- ^ van de Vijver, M.; Parish, E.; Aladangady, N. (2013-11). "Thinking outside of the blue box: a case presentation of neonatal methemoglobinemia". Journal of Perinatology. 33 (11): 903–904. doi:10.1038/jp.2013.74. ISSN 1476-5543.
{{cite journal}}: Check date values in:|date=(help) - ^ McMullen, Sarah M.; Patrick, Ward (2013-3). "Cyanosis". The American Journal of Medicine. 126 (3): 210–212. doi:10.1016/j.amjmed.2012.11.004. ISSN 1555-7162. PMID 23410559.
{{cite journal}}: Check date values in:|date=(help) - ^ a b Silove, E D (1994). "Assessment and management of congenital heart disease in the newborn by the district paediatrician". Archives of Disease in Childhood Fetal and Neonatal edition. 70 (1): F71–F74. doi:10.1136/fn.70.1.f71. ISSN 1359-2998. PMC 1060995. PMID 8117134.
- ^ a b Khalil, Markus; Jux, Christian; Rueblinger, Lucie; Behrje, Johanna; Esmaeili, Anoosh; Schranz, Dietmar (2019-4). "Acute therapy of newborns with critical congenital heart disease". Translational Pediatrics. 8 (2): 114–126. doi:10.21037/tp.2019.04.06. ISSN 2224-4344. PMC 6514285. PMID 31161078.
{{cite journal}}: Check date values in:|date=(help)CS1 maint: unflagged free DOI (link) - ^ "Symptoms and Diagnosis of Congenital Heart Defects". www.heart.org. Retrieved 2019-11-13.