Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Diagnostic Task Force Criteria Impact of New Task Force Criteria

Moniek G. P. J. Cox*, Jasper J. van der Smagt, Maartje Noorman, Ans C. Wiesfeld, Paul G. A. Volders, Irene M. van Langen, Douwe E. Atsma, Dennis Dooijes, Arjan C. Houweling, Peter Loh, Luc Jordaens, Yvonne Arens, Maarten J. Cramer, Pieter A. Doevendans, Peter van Tintelen, Arthur A. M. Wilde, Richard N. W. Hauer

*Corresponding author for this work

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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.

Methods and 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 >= 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. (Circ Arrhythm Electrophysiol. 2010;3:126-133.)

Original languageEnglish
Pages (from-to)126-133
Number of pages8
JournalCirculation. Arrhythmia and Electrophysiology
Volume3
Issue number2
DOIs
Publication statusPublished - Apr-2010

Keywords

  • cardiomyopathy
  • diagnosis
  • criteria
  • arrhythmogenic right ventricular dysplasia/cardiomyopathy
  • genetics
  • WAVE-FRONT CURVATURE
  • PLAKOPHILIN-2 MUTATIONS
  • CLINICAL-FEATURES
  • SLOW CONDUCTION
  • NAXOS-DISEASE
  • CARDIOMYOPATHY
  • PLAKOGLOBIN
  • DYSPLASIA
  • ACTIVATION
  • DESMOCOLLIN-2

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