Adult polycystic kidney disease and idiopathic dilated cardiomyopathy: a rare genetic association

Autosomal dominant polycystic kidney disease associated with dilated cardiomyopathy is a very rare association. Adult polycystic kidney disease is a systemic disorder from mutations in either PKD-1 or PKD-2 gene, that encode the proteins polycystin-1 (PC1) and polycystin-2 (PC2) respectively. Polycystin-2 is an intracellular calcium channel expressed in both renal epithelial cells and cardiac myocytes. It regulates intracellular calcium cycling. Mutation causes impaired intracellular calcium cycling and contributes to heart failure. Those who have PKD-2 mutation can have polycystic kidneys associated with idiopathic dilated cardiomyopathy.