title: KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  METHODS
  K(ATP) channelopathy caused by missense mutation (Thr1547Ile) of the ABCC9 gene conferring predisposition to adrenergic AF originating from the vein of Marshall.
  
  
  RESULTS
  Disruption of arrhythmogenic gene-environment substrate at the vein of Marshall by radiofrequency ablation.
authors.affiliation: Marriott Heart Disease Research Program, Division of Cardiovascular Diseases, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. olson.timothy@mayo.edu
authors.forename: Timothy M
authors.initials: TM
authors.lastname: Olson
authors.forename: Alexey E
authors.initials: AE
authors.lastname: Alekseev
authors.forename: Christophe
authors.initials: C
authors.lastname: Moreau
authors.forename: Xiaoke K
authors.initials: XK
authors.lastname: Liu
authors.forename: Leonid V
authors.initials: LV
authors.lastname: Zingman
authors.forename: Takashi
authors.initials: T
authors.lastname: Miki
authors.forename: Susumu
authors.initials: S
authors.lastname: Seino
authors.forename: Samuel J
authors.initials: SJ
authors.lastname: Asirvatham
authors.forename: Arshad
authors.initials: A
authors.lastname: Jahangir
authors.forename: Andre
authors.initials: A
authors.lastname: Terzic
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D001281:Atrial Fibrillation / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery*; D017115:Catheter Ablation / Q000379:methods*; D053447:Channelopathies / Q000235:genetics* / Q000628:therapy; D002908:Chronic Disease; D003331:Coronary Vessels / Q000503:physiopathology; D015150:Echocardiography, Doppler; D005260:Female; D006801:Humans; D051666:Kv1.5 Potassium Channel / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D018570:Risk Assessment; D013614:Tachycardia, Paroxysmal / Q000000981:diagnostic imaging / Q000235:genetics / Q000601:surgery; D016896:Treatment Outcome
chemical_list: D018528:ATP-Binding Cassette Transporters; D051666:Kv1.5 Potassium Channel