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Abstract

Summary

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.

Details

Title
Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis
Author
Feldman, Hagit Baris; Chofit Chai Gadot; Zahler, David; Mory, Adi; Aviram, Galit; Elhanan, Emil; Shefer, Gabi; Goldiner, Ilana; Yam Amir  VIAFID ORCID Logo  ; Kurolap, Alina  VIAFID ORCID Logo  ; Ablin, Jacob N 1 

 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. 
Pages
1685-1692
Section
Original Article
Publication year
2023
Publication date
Nov 2, 2023
Publisher
Massachusetts Medical Society
ISSN
00284793
e-ISSN
15334406
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2885237042
Copyright
Copyright © 2023 Massachusetts Medical Society. All rights reserved.