Cystic renal disease and cardiovascular anomalies

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Abstract
Renal cysts are a relatively common but heterogeneous group of disorders that are increasingly being diagnosed prenatally. Prognosis depends on the type of cystic disease, extent of involvement, and the presence or absence of other anomalies. Czeizel (American Journal of Medical Genetics [Supplement] 2:17–21,1986) indicated that a cystic kidney‐cardiovascular malformation association exists. To investigate this further a population based study of renal cysts and associated anomalies in Manitoba children born between 1979 and 1983 was carried out. A total of 46 children with renal cysts were identified from multiple sources (1 per 1,824 total births). The most common types were multicystic dysplasia (1/3,226), cystic dysplasia due to lower urinary tract obstruction (1/ 13,932), and infantile polycystic kidney disease (1/20,973). Other anomalies were seen in 72% of cases and 33% had cardiovascular anomalies. A further 11% had patent ductus arteriosus or single umbilical artery. The incidence of cardiovascular defects excluding patent ductus arteriosus or single umbilical artery was 1/174 in the total birth cohort and our data confirmed a strong association of renal cysts with cardiovascular defects in children with malformations (P < 0.001). The association of cardiac defects with unilateral multicystic dysplasia is especially important. Of the 14 children ascertained with unilateral dysplasia, 4 (28%) had major cardiac defects leading to early death in all instances. Only one of the 4 had additional defects. Unilateral multicystic dysplasia with a normal contralateral kidney usually has a good prognosis. However, recognition of this association with major cardiac defects should alert clinical geneticists to the need for careful assessment of the fetal heart and other systems before counselling high expectations for an optimistic outcome when such cases are diagnosed prenatally.