KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation

Timothy M Olson; Alexey E Alekseev; Christophe Moreau; Xiaoke K Liu; Leonid V Zingman; Takashi Miki; Susumu Seino; Samuel J Asirvatham; Arshad Jahangir; Andre Terzic

doi:10.1038/ncpcardio0792

Journal article

KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation

Timothy M Olson, Alexey E Alekseev, Christophe Moreau, Xiaoke K Liu, Leonid V Zingman, Takashi Miki, Susumu Seino, Samuel J Asirvatham, Arshad Jahangir and Andre Terzic

Nature clinical practice cardiovascular medicine, Vol.4(2), pp.110-116

02/2007

DOI: 10.1038/ncpcardio0792

PMCID: PMC2013306

PMID: 17245405

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Abstract

A 53-year-old female presented with a 10-year history of paroxysmal atrial fibrillation (AF), precipitated by activity and refractory to medical therapy. In the absence of traditional risk factors for disease, a genetic defect in electrical homeostasis underlying stress-induced AF was explored. Echocardiography, cardiac perfusion stress imaging, invasive electrophysiology with isoproterenol provocation, genomic DNA sequencing of K(ATP) channel genes, exclusion of mutation in 2,000 individuals free of AF, reconstitution of channel defect with molecular phenotyping, and verification of pathogenic link in targeted knockout. K(ATP) channelopathy caused by missense mutation (Thr1547Ile) of the ABCC9 gene conferring predisposition to adrenergic AF originating from the vein of Marshall. Disruption of arrhythmogenic gene-environment substrate at the vein of Marshall by radiofrequency ablation.

Risk Assessment

Coronary Vessels - physiopathology

Humans

Middle Aged

Tachycardia, Paroxysmal - diagnostic imaging

Treatment Outcome

Mutation, Missense

Atrial Fibrillation - genetics

Atrial Fibrillation - surgery

Tachycardia, Paroxysmal - genetics

Channelopathies - therapy

Catheter Ablation - methods

Channelopathies - genetics

ATP-Binding Cassette Transporters - genetics

Atrial Fibrillation - diagnostic imaging

Tachycardia, Paroxysmal - surgery

Echocardiography, Doppler

Kv1.5 Potassium Channel - genetics

Female

Chronic Disease

Details

Title: Subtitle: KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation
Creators: Timothy M Olson - Marriott Heart Disease Research Program, Division of Cardiovascular Diseases, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. olson.timothy@mayo.edu
Alexey E Alekseev
Christophe Moreau
Xiaoke K Liu
Leonid V Zingman
Takashi Miki
Susumu Seino
Samuel J Asirvatham
Arshad Jahangir
Andre Terzic
Resource Type: Journal article
Publication Details: Nature clinical practice cardiovascular medicine, Vol.4(2), pp.110-116
DOI: 10.1038/ncpcardio0792
PMID: 17245405
PMCID: PMC2013306
NLM abbreviation: Nat Clin Pract Cardiovasc Med
ISSN: 1743-4297
eISSN: 1743-4300
Grant note: R01 AG021201-04 / NIA NIH HHS R01 HL075495-01A2 / NHLBI NIH HHS R01 HL075495 / NHLBI NIH HHS R01 AG021201 / NIA NIH HHS
Language: English
Date published: 02/2007
Academic Unit: Internal Medicine
Record Identifier: 9984094749802771

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