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

被引：53

作者：

Cox, Moniek G. P. J. ^{[1
,2
,3
,11
]}

van der Smagt, Jasper J. ^{[1
,2
,3
]}

Noorman, Maartje ^{[1
,2
,3
,11
]}

Wiesfeld, Ans C. ^{[4
,5
]}

Volders, Paul G. A. ^{[6
]}

van Langen, Irene M. ^{[4
,5
]}

Atsma, Douwe E. ^{[8
]}

Dooijes, Dennis ^{[1
,2
,3
]}

Houweling, Arjan C. ^{[9
]}

Loh, Peter ^{[1
,2
,3
]}

Jordaens, Luc ^{[10
]}

Arens, Yvonne ^{[6
]}

Cramer, Maarten J. ^{[1
,2
,3
]}

Doevendans, Pieter A. ^{[1
,2
,3
]}

van Tintelen, Peter ^{[4
,5
]}

Wilde, Arthur A. M. ^{[7
]}

Hauer, Richard N. W. ^{[1
,2
,3
]}

机构：

[1] Univ Med Ctr Utrecht, Dept Cardiol, NL-3584 CX Utrecht, Netherlands

[2] Univ Med Ctr Utrecht, Dept Med Genet, NL-3584 CX Utrecht, Netherlands

[3] Univ Med Ctr Utrecht, Dept Med Physiol, NL-3584 CX Utrecht, Netherlands

[4] Univ Groningen, Univ Med Ctr Groningen, Dept Cardiol, Utrecht, Netherlands

[5] Univ Groningen, Univ Med Ctr Groningen, Dept Med Genet, Utrecht, Netherlands

[6] Maastricht Univ, Med Ctr, Utrecht, Netherlands

[7] Acad Med Ctr Amsterdam, Utrecht, Netherlands

[8] Univ Med Ctr Leiden, Utrecht, Netherlands

[9] Vrije Univ Amsterdam, Med Ctr Amsterdam, Utrecht, Netherlands

[10] Erasmus MC, Utrecht, Netherlands

[11] Interuniv Cardiol Inst Netherlands, Utrecht, Netherlands

来源：

CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY | 2010年 / 3卷 / 02期

关键词：

cardiomyopathy; diagnosis; criteria; arrhythmogenic right ventricular dysplasia/cardiomyopathy; genetics; WAVE-FRONT CURVATURE; PLAKOPHILIN-2; MUTATIONS; CLINICAL-FEATURES; SLOW CONDUCTION; CARDIOMYOPATHY; PLAKOGLOBIN; DYSPLASIA; DESMOGLEIN-2; EXPRESSION; DELETION;

D O I：

10.1161/CIRCEP.109.927202

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.)

引用

页码：126 / 133

页数：8

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