Aim There is little in literature about recurrence of congenital heart diseases (CHD) in Egypt. So we analysed the cases referred for fetal Echocardiography due to family history of CHD to determine the recurrence rate of CHD in each family member category in order to guide family counselling.
Methods Cases referred for fetal Echocardiographic examinations for family history of CHD during a period of 4 years from October 2011 to October were retrospectively analysed. Fetuses with confirmed diagnosis by postnatal transthoracic Echo were included in the study while those referred for other CHD risk factors were excluded like diabetes mellitus, drug exposure, and rubella infection. Affected family members were determined from the history and divided into the following categories: first degree (sibling, paternal, maternal), second degree and double family members (double risk). Recurrence rate is calculated as percentage of affected fetuses from the referred fetuses in each family category.
Results Cases fulfilled inclusion criteria were 57 fetuses. The median maternal age was 27(IQR 8) year. The mean gestational age at first referral was 27.14 ± 0.75 week. Referrals for family history were mostly due to having another sib with CHD 45 (78.9%) followed by maternal CHD 10 (17%), double family risk 1 (1.8%), 2nd degree relative 1 (1.8%) and no cases referred for paternal CHD (see Figure 1).
Using fetal echocardiography, fetuses were diagnosed as normal 45 (82.5%) and structural cardiac anomalies 10(17.5%). The total recurrence rate of CHD was 10/57 (17.54%) with high recurrence rate in category of sib with CHD 9/45 (20%) and for double risk 1/1(100%), while recurrence rate was 0% in fetuses with maternal CHD as well as second degree relative (see Table 1).
Conclusion Recurrence rate of CHD in our study is considered elevated than previous reports from other countries. Higher recurrence is noticed with double affected family members and if another sib have CHD. The current data could impact the family counselling and guide future research about the relation of CHD recurrence to ethnicity or consanguinity.
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