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Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis
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Journal Article
Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis
2023
Overview
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.
Findings from a study involving two siblings homozygous for a null variant in
CORIN
have implications for understanding the extent to which the BNP and ANP pathways overlap.
Publisher
Massachusetts Medical Society
Subject
/ Arrhythmias, Cardiac - diagnosis
/ Arrhythmias, Cardiac - genetics
/ Arrhythmias, Cardiac - metabolism
/ Arrhythmias, Cardiac - pathology
/ Atrial Natriuretic Factor - blood
/ Atrial Natriuretic Factor - genetics
/ Atrial Natriuretic Factor - metabolism
/ Cardiomyopathies - diagnosis
/ Cardiomyopathies - metabolism
/ Fibrosis
/ Genes
/ Genetics
/ Heart Atria - diagnostic imaging
/ Humans
/ Natriuretic Peptide, Brain - blood
/ Natriuretic Peptide, Brain - genetics
/ Natriuretic Peptide, Brain - metabolism
/ Patients
/ Peptides
/ Plasma
/ Serine Endopeptidases - blood
/ Serine Endopeptidases - genetics
/ Serine Endopeptidases - metabolism
/ Siblings
