Atrial Natriuretic Peptide Frameshift Mutation in Familial Atrial Fibrillation

Denice M HODGSON-ZINGMAN; Margaret L KARST; Leonid V ZINGMAN; Denise M HEUBLEIN; Dawood DARBAR; Kathleen J HERRON; Jeffrey D BALLEW; Mariza DEANDRADE; John C BURNETT; Timothy M OLSON

doi:10.1056/NEJMoa0706300

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Atrial Natriuretic Peptide Frameshift Mutation in Familial Atrial Fibrillation

Journal article

Open access

Peer reviewed

Atrial Natriuretic Peptide Frameshift Mutation in Familial Atrial Fibrillation

Denice M HODGSON-ZINGMAN, Margaret L KARST, Leonid V ZINGMAN, Denise M HEUBLEIN, Dawood DARBAR, Kathleen J HERRON, Jeffrey D BALLEW, Mariza DEANDRADE, John C BURNETT and Timothy M OLSON

The New England journal of medicine, Vol.359(2), pp.158-165

2008

DOI: 10.1056/NEJMoa0706300

PMCID: PMC2518320

PMID: 18614783

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Abstract

Atrial fibrillation is a common arrhythmia that is hereditary in a small subgroup of patients. In a family with 11 clinically affected members, we mapped an atrial fibrillation locus to chromosome 1p36-p35 and identified a heterozygous frameshift mutation in the gene encoding atrial natriuretic peptide. Circulating chimeric atrial natriuretic peptide (ANP) was detected in high concentration in subjects with the mutation, and shortened atrial action potentials were seen in an isolated heart model, creating a possible substrate for atrial fibrillation. This report implicates perturbation of the atrial natriuretic peptide-cyclic guanosine monophosphate (cGMP) pathway in cardiac electrical instability.

Heart

Cardiology. Vascular system

Biological and medical sciences

General aspects

Medical sciences

Cardiac dysrhythmias

Details

Title: Subtitle: Atrial Natriuretic Peptide Frameshift Mutation in Familial Atrial Fibrillation
Creators: Denice M HODGSON-ZINGMAN - Department of Internal Medicine, University of Iowa, Carver College of Medicine, Iowa City, United States
Margaret L KARST - Cardiovascular Genetics Laboratory, Department of Internal Medicine, College of Medicine, Mayo Clinic, Rochester, MN, United States
Leonid V ZINGMAN - Department of Internal Medicine, University of Iowa, Carver College of Medicine, Iowa City, United States
Denise M HEUBLEIN - CaYdiorenal Research Laboratory, Department of Physiology and Internal Medicine, College of Medicine, Mayo Clinic, Rochester, MN, United States
Dawood DARBAR - Cardiovascular Genetics Laboratory, Department of Internal Medicine, College of Medicine, Mayo Clinic, Rochester, MN, United States
Kathleen J HERRON - Cardiovascular Genetics Laboratory, Department of Internal Medicine, College of Medicine, Mayo Clinic, Rochester, MN, United States
Jeffrey D BALLEW - CaYdiorenal Research Laboratory, Department of Physiology and Internal Medicine, College of Medicine, Mayo Clinic, Rochester, MN, United States
Mariza DEANDRADE - Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, United States
John C BURNETT - Cardiovascular Genetics Laboratory, Department of Internal Medicine, College of Medicine, Mayo Clinic, Rochester, MN, United States
Timothy M OLSON - Cardiovascular Genetics Laboratory, Department of Internal Medicine, College of Medicine, Mayo Clinic, Rochester, MN, United States
Resource Type: Journal article
Publication Details: The New England journal of medicine, Vol.359(2), pp.158-165
Publisher: Massachusetts Medical Society
DOI: 10.1056/NEJMoa0706300
PMID: 18614783
PMCID: PMC2518320
ISSN: 0028-4793
eISSN: 1533-4406
Language: English
Date published: 2008
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Cardiovascular Medicine; Internal Medicine
Record Identifier: 9984094570702771

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