Epidemiological characterization of congenital heart disease in São Miguel Island, Azores, Portugal.

Objectives: This study aimed to characterize the prevalence of congenital heart disease (CHD) in children born alive in São Miguel island from January 1992 to December 2001.

Methods: Based on the Azorean Registry of CHD, which includes complete clinical and personal information, 189 patients were diagnosed.

Results: During this 10-year period, the average prevalence of CHD is 9.16 per 1,000 live births (range 4.77-12.75). The most frequent cardiac malformations found were: ventricular septal defect (38.1%), atrial septal defect (12.2%) and patent ductus arteriosus (11.6%). Until now, four familial clusters were identified, representing a total of 13 patients.

Conclusions: This first epidemiological study of CHD in the Azorean population reveals evidence for familial aggregation, which is of great interest for understanding the genes involved in these complex pathologies.