Arrhythmogenic right ventricular dysplasia/cardiomyopathy diagnostic task force criteria: impact of new task force criteria.
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.
Cox
Moniek G P J
MG
Department of Cardiology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands. m.g.p.j.cox@umcutrecht.nl
van der Smagt
Jasper J
JJ
Noorman
Maartje
M
Wiesfeld
Ans C
AC
Volders
Paul G A
PG
van Langen
Irene M
IM
Atsma
Douwe E
DE
Dooijes
Dennis
D
Houweling
Arjan C
AC
Loh
Peter
P
Jordaens
Luc
L
Arens
Yvonne
Y
Cramer
Maarten J
MJ
Doevendans
Pieter A
PA
van Tintelen
J Peter
JP
Wilde
Arthur A M
AA
Hauer
Richard N W
RN
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
C081561:DSC2 protein, human; C495314:DSG2 protein, human; D051187:Desmocollins; D051301:Desmoglein 2; C495337:PKP2 protein, human; D051191:Plakophilins