This is a case study of an infant with major congenital heart disease which illustrates problems encountered with a dynamic and changing pre-operative clinical picture and subsequent late and unexpected complications of cardiac surgery. This study will demonstrate the importance of appropriate investigations based on good clinical reasoning and working within a managed clinical network. The study is divided into three parts depending on the colour (clinical system affected) with which the child presented.

PART I: “COLOUR IS BLUE”

The patient was born at term by caesarean section for fetal distress and had good Apgar scores. As there were no concerns, mother and baby were transferred to the postnatal ward. A grade 3/6 systolic murmur was detected during the newborn check on the following day. On admission to the neonatal unit vital signs, including four limb blood pressures, were normal except for oxygen saturation which fluctuated between 84% and 95% in air although cyanosis was not clinically apparent. The local paediatrician, with an interest in cardiology, performed an echocardiogram which revealed type II truncus arteriosus which had not been identified on antenatal scans. The infant was referred to the tertiary cardiology unit where the diagnosis was confirmed. In addition to the cardiac anomaly, there were dysmorphic features including long face, short philtrum and low set ears. Chromosomal analysis confirmed 22q11.2 deletion (DiGeorge syndrome) which frequently presents with truncus arteriosus. No other structural, metabolic or haematological abnormalities commonly associated with DiGeorge syndrome were present.

Comment

• Congenital heart disease is common with an incidence of 7–8/1000.1 2 Antenatal detection of congenital cardiac disease is improving, but the detection rate is quite variable with sensitivities ranging from 25% to 75%.3 4

• Currently, screening at postnatal examination and at 6–8 weeks is performed to detect congenital cardiac lesions.5 However, a number of significant lesions, particularly duct dependent …