Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Diagnostic 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. 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 Ն55 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,

Abnormal atrial activation is common in patients with arrhythmogenic right ventricular cardiomyopathy

“…However, as recently shown, 28 the new criteria are more likely to increase the number of possible and borderline ARVC cases rather than to revise diagnosis in patients who were diagnosed with ARVC earlier.…”

Recurrent and founder mutations in the Netherlands

“…Applying these modified TFC to a Dutch cohort of patients with proven ARVC/D, their family members, and to patients with probable ARVC/D, produced a major increase in the diagnostic yield of ARVC/D, especially due to the revised ECG criteria and the identification of pathogenic mutations. 7 The estimated prevalence of ARVC/D ranges from 1:1000 to 1:5000, with men being more frequently affected than women. ARVC/D is familial in up to 50% of cases.…”

“…7,[21][22][23] PKP2 has the highest yield from mutational screening, being present in up to 55% of patients in the Netherlands and the USA in groups fulfilling the TFC. 7,[14][15][16][17] The detection of a pathogenic mutation in a proband diagnosed with ARVC/D has important implications for family members. Cascade screening will identify previously unknown mutation carriers, enabling timely diagnosis and facilitating prevention of subsequent complications, thereby reducing morbidity and mortality.…”

Cardiac Arrest and Sudden Cardiac Death in the Pediatric Population

“…Identification of clinical criteria may aid in the diagnosis [43,45]. According to revised 2010 guidelines, major criteria include severely decreased right ventricular function, the presence of a localized right ventricular aneurysm, evidence of a depolarization abnormality, the presence of epsilon waves by electrocardiogram, evidence of fibrofatty replacement of the myocardium and confirmed family history [45].…”

“…Identification of clinical criteria may aid in the diagnosis [43,45]. According to revised 2010 guidelines, major criteria include severely decreased right ventricular function, the presence of a localized right ventricular aneurysm, evidence of a depolarization abnormality, the presence of epsilon waves by electrocardiogram, evidence of fibrofatty replacement of the myocardium and confirmed family history [45]. Minor criteria include (1) mild global myocardial dysfunction, (2) mild segmental right ventricular dilation, (3) regional right ventricular hypokinesia, (4) evidence of late potential on signal average ECG, (5) inverted T waves in the right precordial leads (V2 and V3) in persons > 12 years of age, (6) frequent ventricular extrasystoles (>1,000 per 24 hours), (7) a family history of premature death (age < 35 years), and (7) a (clinical) family history.…”