Renal dysplasia - coarctation of aorta. A new association/syndrome: a report of 6 cases

Abstract

Renal dysplasia is a congenital disorder of the kidneys, characterized by undifferentiated mesenchyme, immature collecting tubules and abnormal organization and is nearly always cystic. Aortic coarctation is defined as a narrowing of the aorta in the area where the ductus inserts. It may be seen as an isolated defect or associated with congenital abnormalities of the aortic valve and the left heart. The concurrent findings of aortic coarctation and renal dysplasia have not been described previously. We report a series of 6 cases with aortic coarctation and renal dysplasia with different degree of severity and outcomes. Case series (table): The 6 cases were of mixed ethnic background. Family history of renal problems was noted in 3 of the 6 patients and one case was the product of a consanguineous marriage (first cousins). All but 1 had bilateral multicystic renal dysplasia detected antenatally and only in 2 was the coarctation detected prenatally. One patient had facial features consistent with Potter sequence. Three others had common facial features with a high flat forehead, large fontanelles, deep-set eyes, hypertelorism, short noses, slightly low-set ears, single palmer creases and deep-set nails. There was no evidence of severe intrauterine growth retardation or other major birth defects. All had normal karyotypes (patient 3 had a familial inversion of chromosome 18 inherited from his mother) and no deletion at 22q11.2. One pregnancy was terminated, one child died at 3 days of life, one survived and has end-stage renal failure and mild-to-moderate developmental delay and the other 3 survived without major issues following repair of the coarctation. The combination of renal dysplasia and congenital heart defects is rare and has been reported in a variety of chromosome abnormalities, single gene disorders (Meckel syndrome) and VACTERL association. However, the combination of renal dysplasia and coarctation of aorta is a rare event and can represent a hitherto new condition with yet unknown mode of inheritance. Parental consanguinity in one of our cases suggests autosomal recessive mode of inheritance.