Le cardiopatie congenite in una popolazione data-based

Altogether 429.139 consecutive births were survcjed during the eighteen years study period by the Emilia-Roinagna Registry. Among these, 2147 newborns with congenital heart defects (CUD) (prevalence 5 per 1000) were detected within the first week of life. There were 1607 isolated CHDs and 540 cases had other associated defects. During the study period an increase in prevalence/rate of CHDs was observed ( from 3.1 per 1000 in 1980 to over 7 per 1000 in 1998), particularly isolated CHDs increased from 2.2 to 6 per 1000, while the prevalence rate of CHDs cases with other associated anomalies was constant ranging from 1 to 2 per 1000. The increase of isolated CHDs was due to the increased number of " minor" lesions such as ventricular (VSD) and atrial septal defect. The apparent increase in birth prevalence of CHD mainly results from improved diagnosis due to widespread use of color-doppler ecocardiography. As in other studies , a significant shift in the sex-ratio has been documented a male predominance in transposition of great arteries, left hypoplastic heart and aortic stenosis (male/female ratio 2.2, 2.3, 4.5 respectively) were found ; while VSD had a slight female excess (male/female ratio 0.96). The study confirmed that the majority of the affected parents were mothers. Thé recurrence risk of a cardiac defect in first degree relatives was 2.3% , while the recurrence risk of isolated conotruncal defects was 3.9%. Out of 47 cases with isolated conotruncal defects 4 had microdeletion of chromosome 22qll.2 and concerning the first degree relatives in one case the father had the deletion without CHD.