• Hagit Baris Feldman, Chofit Chai Gadot, David Zahler, Adi Mory, Galit Aviram, Emil Elhanan, Gabi Shefer, Ilana Goldiner, Yam Amir, Alina Kurolap, and Jacob N Ablin.
• From the Genetics Institute and Genomics Center (H.B.F., C.C.G., A.M., E.E., Y.A., A.K.), the Departments of Cardiology (D.Z.), Radiology (G.A.), Nephrology (E.E.), Clinical Laboratories (G.S., I.G.), and Internal Medicine H (J.N.A.) and the Institute of Rheumatology (J.N.A.), Tel Aviv Sourasky Medical Center, and the Faculty of Medicine, Tel Aviv University (H.B.F., D.Z., G.A., I.G., Y.A., J.N.A.) - all in Tel Aviv, Israel.
• N. Engl. J. Med. 2023 Nov 2; 389 (18): 168516921685-1692.

AbstractTwo 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.Copyright © 2023 Massachusetts Medical Society.

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