Congenital cyanotic heart disease – aka blue baby syndrome accounts for about 25% of all congenital heart defects
Causes
There are lots more! In the exam, you might be asked to examine a child, and be expected to come to a conclusion of ‘congenital cyanotic heart disease’, and then give a few examples of what can cause it:
- Tetralogy of Fallot
- Transposition of the great arteries
- Coarctation of the aorta (only after closure of the PDA ~ 3 days)
- Pulmonary atresia
- Pulmonary stenosis
Presentation
- Most cases are duct dependent – which means the ductus arteriosus allows blood to flow left to right across the duct, to the lungs. However, the duct may close after 1-2 days, and at this time, symptoms may worsen
- Pale / central cyanosis
- Blue baby!
- Possible impalpable femoral pulses / weak peripheral circulation
- Acidosis
Diagnosis
- Echocardiography
- Blood culture to rule out sepsis
Differentials
- Cyanotic heart disease
- Inborn error of metabolism
Treatment
- Maintaining the PDA is the key to survival
- Immediate management
- Stabilise airway and circulation, using mechanical ventilation if necessary
- IV prostaglandin (PGE) – to maintain the PDA. Keep a close eye on the therapeutic level, and watch for:
- Apnoea, seizures, vasodilation (and flushing), hypotension
References
- Congenital Heart Disease in Children
- Murtagh’s General Practice. 6th Ed. (2015) John Murtagh, Jill Rosenblatt
- Oxford Handbook of General Practice. 3rd Ed. (2010) Simon, C., Everitt, H., van Drop, F.
- Beers, MH., Porter RS., Jones, TV., Kaplan JL., Berkwits, M. The Merck Manual of Diagnosis and Therapy