Details

Autor(en) / Beteiligte

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

Titel

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

Ist Teil von

• Circulation. Arrhythmia and electrophysiology, 2010-04, Vol.3 (2), p.126-133

Ort / Verlag

Hagerstown, MD: American Heart Association, Inc

Erscheinungsjahr

2010

Quelle

MEDLINE

Beschreibungen/Notizen

• 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 addedterminal 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 found58 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 TFC9 (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 TFC8 (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.