The evolution of diagnostic trends in congenital heart disease: A population-based study

To analyse historical trends in diagnosis of congenital heart disease (CHD) in all diagnosed cardiac malformations born between 1945 and 1994 in a population-based study, the first of its type.

Retrospective analysis of age and mode of diagnosis was carried out in 953 patients with CHD, in the setting of a regional hospital providing diagnostic and follow up services for all of Malta. Main outcome measures were age at diagnosis, cumulative percentage diagnosis by age and mode of diagnosis.

A significant negative correlation of age at diagnosis with time was found for both lesions not requiring intervention, and requiring intervention (P < 0.0001). Cumulative percentage diagnosis by age increased progressively with time. Echocardiography increased the birth prevalence of definitively diagnosed defects, particularly of lesions not requiring intervention. The annual number of cardiac catheters for these conditions has decreased with an increased number and proportion of interventional catheters. The current catheterization rate for CHD is 6.1/100 000 population.

Echocardiography has led to an increase in the diagnosis in the birth prevalence of CHD, and provided early diagnosis, supplanting cardiac catheterization as a primary diagnostic tool.