Syndromes and malformations associated with congenital heart disease in a population-based study

Congenital cardiac malformations are frequently associated with non-cardiac malformations and chromosomal anomalies. Management is therefore influenced by interventional needs for all of the various anomalies. We have studied the association of congenital heart disease with extracardiac anomalies in the relatively closed population of Malta, where echocardiographic screening of all syndromic/multiply malformed infants is routinely carried out. Malformations were classified by using the EUROCAT method, for the first time. During 1990–1994, the birth prevalence of congenital heart disease was 8.8/1000 live births (n=231). Of these, 21 (9%) had recognised chromosomal anomalies (0.80/1000 live births; 95% CI: 0.51–1.25), four (2%) had recognised non-chromosomal syndromes and 14 (6%) had other, major, non-cardiac malformations (0.69/1000 live births; 95% CI: 0.42–1.11). The commonest non-cardiac anomalies were musculoskeletal anomalies. Down syndrome accounted for 95% of all syndromic congenital heart disease, with a birth prevalence of 0.73/1000 live births (95% CI: 0.45–1.16). Comparison of these results with earlier studies showed wide disparities between studies, and this was attributed to differences in methods. such as differing inclusion criteria for both congenital heart disease and syndromes and malformations. The commonest lesion found in association with Down syndrome was isolated ventricular septal defect, not atrioventricular septal defect, and this was attributed to our screening process which identifies small lesions which would otherwise have been clinically missed and/or closed spontaneously.