title: Arrhythmogenic right ventricular dysplasia/cardiomyopathy diagnostic task force criteria: impact of new task force criteria.
abstract: BACKGROUND
  Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) Diagnostic Task Force Criteria (TFC) proposed in 1994 are highly specific but lack sensitivity. A new international task force modified criteria to improve diagnostic yield. A comparison of diagnosis by 1994 TFC versus newly proposed criteria in 3 patient groups was conducted.
  
  
  RESULTS
  In new TFC, scoring by major and minor criteria is maintained. Structural abnormalities are quantified and TFC highly specific for ARVD/C upgraded to major. Furthermore, new criteria are added: terminal activation duration of QRS > or = 55 ms, ventricular tachycardia with left bundle-branch block morphology and superior axis, and genetic criteria. Three groups were studied: (1) 105 patients with proven ARVD/C according to 1994 TFC, (2) 89 of their family members, and (3) 39 patients with probable ARVD/C (ie, 3 points by 1994 TFC). All were screened for pathogenic mutations in desmosomal genes. Three ARVD/C patients did not meet the new sharpened criteria on structural abnormalities and thereby did not fulfill new TFC. In 62 of 105 patients with proven ARVD/C, mutations were found: 58 in the gene encoding Plakophilin2 (PKP2), 3 in Desmoglein2, 3 in Desmocollin2, and 1 in Desmoplakin. Three patients had bigenic involvement. Ten additional relatives (11%) fulfilled new TFC: 9 (90%) were female, and all carried PKP2 mutations. No relatives lost diagnosis by application of new TFC. Of patients with probable ARVD/C, 25 (64%) fulfilled new TFC: 8 (40%) women and 14 (56%) carrying pathogenic mutations.
  
  
  CONCLUSIONS
  In this first study applying new TFC to patients suspected of ARVD/C, 64% of probable ARVD/C patients and 11% of family members were additionally diagnosed. ECG criteria and pathogenic mutations especially contributed to new diagnosis. Newly proposed TFC have a major impact in increasing diagnostic yield of ARVD/C.
authors.affiliation: Department of Cardiology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands. m.g.p.j.cox@umcutrecht.nl
authors.forename: Moniek G P J
authors.initials: MG
authors.lastname: Cox
authors.forename: Jasper J
authors.initials: JJ
authors.lastname: van der Smagt
authors.forename: Maartje
authors.initials: M
authors.lastname: Noorman
authors.forename: Ans C
authors.initials: AC
authors.lastname: Wiesfeld
authors.forename: Paul G A
authors.initials: PG
authors.lastname: Volders
authors.forename: Irene M
authors.initials: IM
authors.lastname: van Langen
authors.forename: Douwe E
authors.initials: DE
authors.lastname: Atsma
authors.forename: Dennis
authors.initials: D
authors.lastname: Dooijes
authors.forename: Arjan C
authors.initials: AC
authors.lastname: Houweling
authors.forename: Peter
authors.initials: P
authors.lastname: Loh
authors.forename: Luc
authors.initials: L
authors.lastname: Jordaens
authors.forename: Yvonne
authors.initials: Y
authors.lastname: Arens
authors.forename: Maarten J
authors.initials: MJ
authors.lastname: Cramer
authors.forename: Pieter A
authors.initials: PA
authors.lastname: Doevendans
authors.forename: J Peter
authors.initials: JP
authors.lastname: van Tintelen
authors.forename: Arthur A M
authors.initials: AA
authors.lastname: Wilde
authors.forename: Richard N W
authors.initials: RN
authors.lastname: Hauer
mesh_terms: D000328:Adult; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000175:diagnosis* / Q000235:genetics*; D002932:Cineangiography / Q000592:standards / Q000706:statistics & numerical data; D015331:Cohort Studies; D051187:Desmocollins / Q000235:genetics; D051301:Desmoglein 2 / Q000235:genetics; D003935:Diagnostic Techniques, Cardiovascular / Q000592:standards* / Q000706:statistics & numerical data*; D015716:Electrocardiography, Ambulatory / Q000592:standards / Q000706:statistics & numerical data; D005080:Exercise Test / Q000592:standards / Q000706:statistics & numerical data; D005192:Family Health; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000592:standards / Q000706:statistics & numerical data; D008875:Middle Aged; D009154:Mutation; D051191:Plakophilins / Q000235:genetics; D012680:Sensitivity and Specificity; D055815:Young Adult
chemical_list: C081561:DSC2 protein, human; C495314:DSG2 protein, human; D051187:Desmocollins; D051301:Desmoglein 2; C495337:PKP2 protein, human; D051191:Plakophilins