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

Hagit Baris Feldman1, Chofit Chai Gadot1, David Zahler1

  • 1From 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.

The New England Journal of Medicine
|November 1, 2023
PubMed

Insights

Corin enzyme deficiency in siblings caused severe cardiovascular issues, including cardiomyopathy and hypertension. This highlights corin's critical role in atrial natriuretic peptide (ANP) activation and maintaining heart health.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Biochemistry

Background:

  • Atrial natriuretic peptide (ANP) is crucial for cardiovascular homeostasis.
  • The enzyme corin is responsible for activating ANP.

Observation:

  • Two siblings presented with severe cardiovascular conditions: cardiomyopathy, hypertension, arrhythmia, and left atrial fibrosis.
  • Genetic analysis revealed homozygous null variants in the CORIN gene in both siblings.

Findings:

  • Plasma analysis showed undetectable corin and N-terminal pro-ANP, but elevated B-type natriuretic peptide (BNP) and fibrosis markers.
  • These results indicate BNP cannot fully compensate for the lack of ANP activation due to corin deficiency.

Implications:

  • Corin is essential for normal ANP activity and function.
  • Corin deficiency severely impacts left atrial function and overall cardiovascular homeostasis.
  • Understanding corin's role opens new avenues for treating related cardiovascular diseases.

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