Table 1.
Task Force Criteria, revised of 2010 [3] includes the following parts: Group I: Global or regional dysfunction and structural alterations; Group II: Tissue characterization of wall (biopsies); Group III: Repolarization abnormalities; Group IV: Depolarization/conduction abnormalities; Group V: Arrhytmias; Group VI: Family history (including mutations). The diagnosis of ARVC relies on the demonstration of structural, functional, and electrophysiological abnormalities. Depending on the severity, the changes can fulfill minor or major criteria. Carriership of a known pathogenic mutation fulfills a major criterion in group IV. Definite diagnosis: 2 major or 1 major plus 2 minor or 4 minor criteria from different groups. Borderline: 1 major plus 1 minor or 3 minor criteria from different categories. Possible: 1 major or 2 minor criterion from different groups
| Patient no/sex | Age at genetic screening (yrs) | Age at first symptom and diagnosis (yrs) | Revised Task Force Criteria, 2010 | Category of Diagnosis | |||||
|---|---|---|---|---|---|---|---|---|---|
|
| |||||||||
| Group I | Group II | Group III | Group IV | Group V | Group VI | ||||
| Family A | |||||||||
| II:1*/F | - | 22/41 | X | X | X | - | I | G | Definite |
| Family B | |||||||||
| II:5/M | 53 | - | - | NA | - | - | - | G | Possible |
| III:8/M | 34 | - | - | NA | - | - | - | G | Possible |
| III:9/F | 33 | - | - | NA | - | - | - | G | Possible |
| IV:7/F | 2 | NA | NA | NA | NA | NA | NA | G | Possible |
| IV:8/F | 1 | NA | NA | NA | NA | NA | NA | G | Possible |
| II:6/F | 53 | ? | ? | NA | - | ? | ? | X+G | Possible |
| III:12*/M | - | 32/32 | X | NA | X | - | X+I | G | Definite |
| II:8/F | 47 | - | - | NA | - | - | - | G | Possible |
| III:14/F | 19 | - | - | NA | - | NA | - | G | Possible |
| II:9/M | 45 | - | - | NA | I | - | - | X+G | Borderline |
| III:18/M | 14 | 16 | X | NA | X | I | I | X+G | Definite |
| II:10/F | 42 | - | - | NA | - | I | - | G | Borderline |
| III:19/M | 18 | - | - | NA | - | NA | - | G | Possible |
| Family C | |||||||||
| II:1*/F | - | -/65 | X | NA | X | I | I | G | Definite |
| Family D | |||||||||
| I:2/M | - | - | ? | NA | ? | ? | ? | X+G | Possible |
| II:2/F | 51 | -/63 | - | NA | X | - | - | X+G | Definite |
| III:1/M | - | 25/26 | X | X | X | I | I | X+G | Definite |
| III:2*/F | 29 | 29/30 | X | X | X | - | I | X+G | Definite |
| III:3/M | 39 | - | - | NA | - | I | NA | X+G | Borderline |
| IV:5/M | 8 | - | - | NA | - | I | - | X+G | Borderline |
| IV:6/M | 10 | - | - | NA | - | - | - | G | Possible |
| IV:7/M | 10 | - | - | NA | - | - | - | G | Possible |
Abbreviations: M = Male; F = Female; RV = right ventricular; - = normal results; X = major criteria; I = minor criteria; G = mutation positive; NA = not applicable/not performed; * = proband; ? = performed elsewhere and result not known.