Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis

N Engl J Med. 2023 Nov 2;389(18):1685-1692. doi: 10.1056/NEJMoa2301908.

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.

Publication types

  • Case Reports

MeSH terms

  • Arrhythmias, Cardiac* / diagnosis
  • Arrhythmias, Cardiac* / genetics
  • Arrhythmias, Cardiac* / metabolism
  • Arrhythmias, Cardiac* / pathology
  • Atrial Fibrillation
  • Atrial Natriuretic Factor / blood
  • Atrial Natriuretic Factor / genetics
  • Atrial Natriuretic Factor / metabolism
  • Cardiomyopathies* / blood
  • Cardiomyopathies* / diagnosis
  • Cardiomyopathies* / genetics
  • Cardiomyopathies* / metabolism
  • Fibrosis
  • Heart Atria* / diagnostic imaging
  • Heart Atria* / metabolism
  • Heart Atria* / pathology
  • Humans
  • Hypertension* / blood
  • Hypertension* / genetics
  • Hypertension* / metabolism
  • Natriuretic Peptide, Brain / blood
  • Natriuretic Peptide, Brain / genetics
  • Natriuretic Peptide, Brain / metabolism
  • Serine Endopeptidases / blood
  • Serine Endopeptidases / genetics
  • Serine Endopeptidases / metabolism
  • Siblings

Substances

  • Atrial Natriuretic Factor
  • CORIN protein, human
  • Natriuretic Peptide, Brain
  • Serine Endopeptidases