EUROCAT study: Association between specific congenital heart anomalies and Smith Lemli Opitz like birth defects

We wanted to know whether there is an association between heart defects that are known to be related to errors in the cholesterol metabolism and SLO like anomalies. Although knowledge on aetiological mechanisms of heart defects is improving still only in 15% a cause can be found (Botto LD et al 2003). It is very well possible that among the 85% heart anomalies without an unknown cause, underdiagnosis of SLO syndrome or involvement of other errors in the cholesterol metabolism could be the case. The objective of the study is therefore to investigate the association between different heart defect groups and other anomalies that are related to errors in the cholesterol metabolism among children and foetuses not diagnosed with SLOS or other genetic anomalies.