Co-Occurring Non-Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co-occurring anomalies in CHD in a well-defined population. The anomalies co-occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal anomaly during 29 years in 387,067 consecutive pregnancies of known outcome in the area covered by our population-based registry of congenital anomalies. Of the 4640 cases with CHD ascertained during this period (prevalence of 119.9 per 10,000), 1228 (26.5%) had associated major anomalies. There were 410 (8.8%) cases with chromosomal abnormalities including 253 trisomies 21 (62%), and 114 (2.5%) syndromes including 23 cases with VACTERL association (24%). Seven hundred and four (15.2%) of the cases had non-syndromic, non-chromosomal multiple congenital anomalies (MCA). Anomalies in the urogenital, musculoskeletal, gastrointestinal, ear, face, and neck, and central nervous systems were the most common other anomalies. In conclusion the overall prevalence of co-occurring anomalies which was one in four cases emphasizes the need for a thorough investigation of cases with CHD. Routine screening for other anomalies may be considered in cases with CHD. One should be aware that the anomalies associated with CHD can be classified into a recognizable anomaly, chromosomal or syndromic in one out of 10 cases with CHD.