Congenital cyanotic heart diseaseaka blue baby syndrome
These account 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

Related entries