Delayed recognition of congenital heart disease

The aim of this prospective study was to evaluate the proportion of children with delayed recognition of congenital heart disease (CHD).

Of the 744 children with CHD primarily diagnosed during a 10 year period in one hospital, the patients were identified where the diagnosis of CHD was established with a significant delay.

Sixty six patients (8.9%) had delayed diagnosis of CHD. Among patients with cyanotic CHD, 10.4% (7 of 67 cases) were referred after they had initially been discharged home from the birth clinic. Among patients with acyanotic CHD, 8.7% (59 of 677) of all children and 35.1% (59 of 168) of the children who required surgery or interventional catheterisation were referred at an age where elective repair should have already been performed or needed immediate treatment because of their haemodynamic status. Of the 66 patients with delayed diagnosis, one infant with cor triatriatum died at admission because of delayed referral and 10 children had severe complications: preoperative cardiogenic shock in seven cases of aortic coarctation and one case of endocardial fibroelastosis, pulmonary hypertensive crisis in one child after delayed repair of a ventricular septal defect, and infectious endocarditis after dental care in a teenager with undiagnosed moderate aortic stenosis, who required Ross operation a few months later.

A substantial proportion of CHD was detected with relevant delay. In all cases of late diagnosis, clinical cardiac findings were present that should have alerted the physician on the possible presence of underlying CHD.