PAX2 heterozygous variants lead to various renal phenotypes across the morphological continuum of congenital anomalies of the kidney and urinary tract (CAKUT) including RHD (HP:0000089, 65%), vesicoureteral reflux (VUR, HP:0000076, 14%), renal cysts (HP:0000107, 8%) and multicystic dysplastic kidneys (HP:0000003, 6%) [6]. Here, PAX2 is linked to rheumatic heart disease.