Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis
Hagit Baris Feldman, Chofit Chai Gadot, David Zahler, Adi Mory, Galit Aviram, Emil Elhanan, Gabi Shefer, Ilana Goldiner, Yam Amir, Alina Kurolap, Jacob N. Ablin
Abstract
Two siblings presented with cardiomyopathy, hypertension, arrhythmia, and fibrosis of the left atrium. Each had a homozygous null variant in CORIN, the gene encoding atrial natriuretic peptide (ANP)–converting enzyme. A plasma sample obtained from one of the siblings had no detectable levels of corin or N-terminal pro-ANP but had elevated levels of B-type natriuretic peptide (BNP) and one of the two protein markers of fibrosis that we tested. These and other findings support the hypothesis that BNP cannot fully compensate for a lack of activation of the ANP pathway and that corin is critical to normal ANP activity, left atrial function, and cardiovascular homeostasis.