Noncardiac malformations at major congenital heart defects

Using the Swedish Cardiology Registry and the Registry of Congenital Malformations, and after excluding infants with a known chromosomal anomaly, data on 397 infants (15%) born during the period 1981-1990 with a major cardiac defect and at least one noncardiac malformation were analyzed. No clear-cut association appeared between specific heart defects and major groups of noncardiac malformations except for a possible relation between spleen anomalies and endocardial cushion defects. Specific associations also appeared between common truncus and limb reduction defects and between transposition of the great vessels and situs inversus. However, the small numbers of infants in the latter groups and the large number of tested hypotheses make it difficult to exclude chance associations.