Background: Congenital heart disease (CHD) is generally assumed to have a multifactorial etiology. The purpose of this study was to investigate pattern and recurrence of familial aggregation in CHD.
Methods: From Jan 1988 to Dec 2003, 822 fetal echocardiograms whose familial history of CHDs in Seoul National University Hospital was evaluate and enrolled. We excluded syndromic disease, chromosomal abnormalities, associated multiple anomalies.
Results: Among 822 exams, 772 had family with CHD in first degree relatives. We enrolled 735 fetal exams with at least 1 siblings had CHD. If the first baby had CHD, recurrent incidence in consecutive pregnancy was 2.73 %(18/659). When two siblings have CHD, the risk for a subsequent pregnancy reachs 10.5 %(2/19). This recurrence rate was highly dependent on the type of lesion in the 1st baby. Truncal abnormalities were 25 %(3/12). AVSD were 11%(2/18), right sides lesions (tricuspid atresia, pulmonary atresia, pulmonary stenosis etc) were 6.67%(3/45), situs and positional abnormalities were 4.34%(2/46), outflow lesions (DORV, complete TGA, corrected TGA) were 2.27%(2/88), TOF were 1.72%(2/116), VSD were 2.66%(4/150). Most recurrences were concordant with index case. In families with two more recurrences, the exact concordance rate was very high. Exact concordant rate was particularly higher in isolated AVSD and truncus arteriosus.
Conclusions: Our findings suggest the recurrence and concordance rate is high in some family and some type of CHD. We could select families with a “tendency’ to develop CHD, and analyze the genetic pattern to establish abnormalities and the bases of CHD.