| Title | Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. | | Author(s) | Hodgson-Zingman DM, Karst ML, Zingman LV, Heublein DM, Darbar D, Herron KJ, Ballew JD, de Andrade M, Burnett JC, Olson TM | | Institution | Department of Internal Medicine, University of Iowa, Carver College of Medicine, Iowa City, USA. | | Source | N Engl J Med 2008 Jul 10; 359(2):158-65. | | MeSH | 5'-Guanylic Acid
Action Potentials
Adult
Animals
Atrial Fibrillation
Atrial Natriuretic Factor
Chromosome Mapping
Chromosomes, Human, Pair 1
DNA Mutational Analysis
European Continental Ancestry Group
Female
Frameshift Mutation
Humans
Male
Middle Aged
Pedigree
Signal Transduction
| | 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. | | Language | eng | | Pub Type(s) | Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
| | PubMed ID | 18614783 |
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