Overt yet unrecognized cyanosis in a 3-year old boy with right pulmonary artery-to-left atrium communication: malpractice or ignorance?

We present the case of a 3 year-old boy with obvious and severe blue discoloration of the skin and mucous membranes, pre-sent since birth, accompanied by clubbing of the fingers. He lives in the city and has been seen regularly by his pediatrician, and yet was never recognized as cyanotic. Cardiac examination revealed a soft systolic heart murmur. Electrocardiography (ECG) and blood pressure were normal and all peripheral pulses were present. Laboratory tests showed arterial hypoxia and polycythaemia. Echocardiography (ECHO), Doppler, angiography and multi-slice computed tomography pulmonary angiogram were performed. A right pulmonary artery-to-left atrium communication was diagnosed. Other possible causes of cyanosis were excluded. The child underwent surgery. At follow-up, one year later, the child was in excellent health. Labo-ratory tests were within referent values and oxygen saturation was normal. Repeated ECHO studies showed a progressive decrease in the size of the left atrium. This case illustrates the importance of careful physical examination during everyday practice and emphasizes the importance of collaboration between the physician and parents to ensure child wellbeing.

cyanosis, clubbing, right- to- left shunt

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