Table 3

Clinical findings according to desmosomal genotype

Pathological genotype (n=6)Normal genotype (n=41)p value
Age at presentation (years)41 (9)42 (11)0.96
Sports classification dynamic component
  Class B01 (3%)1.0
  Class C6 (100%)39 (97%)
Sports classification static component
  I3 (50%)8 (20%)0.25
  II01 (2%)
  III3 (50%)32 (78%)
Level of exercise
  Professional/elite2 (33%)27 (66%)0.31
  Amateur competition2 (33%)7 (17%)
  Recreational2 (33%)7 (17%)
Amount of sport practised
  Years22 (9)18 (9)0.39
  Hours per week9.2 (2.3)14.3 (8.9)0.005
  Total hours (h/1000)10.0 (5.6)11.6 (8.6)0.69
Family history of ARVC1 (17%)1 (2%)0.24
Presenting symptom
  Aborted sudden death2 (33%)6 (15%)0.49
  (Pre)syncope4 (67%)26 (63%)
  Palpitations08 (20%)
  Asymptomatic (screening)01 (2%)
Treatment
  ICD (± ablation)5 (83%)21 (51%)0.31
  Ablation06 (15%)
  Medications1 (17%)14 (34%)
Follow-up duration (years)10 (10)7 (5)0.34
Outcome
  Major arrhythmic event4 (67%)11 (28%)0.15
  (Pre)syncope04 (10%)
  Asymptomatic/ Palpitations2 (33%)25 (62%)
Task force criteria allocation and investigation results
McKenna Task Force Criteria
  ARVC4 (67%)20 (50%)0.62
  Suspected ARVC1 (17%)15 (37%)
Right Ventricular dysfunction and/ or structural alterations
  Severe RV dysfunction and/or dilation2 (33%)1 (2%)0.04
  Localised RV aneurysm1 (17%)3 (7%)0.43
  Mild RV dilation or dysfunction2 (33%)21 (51%)0.67
  Mild RV segmental dilation1 (17%)10 (25%)1.0
  Regional RV hypokinesia1 (17%)19 (46%)0.22
Normal RV morphology and function2 (33%)15 (37%)1.0
RV Ejection Fraction (%)32.4 (8.6)49.7 (9.4)0.006
(in 3 athletes)(in 24 athletes)
ECG abnormalities
  Epsilon wave or QRS duration ≥ 110 ms in V1 or V21 (17%)8 (20%)1.0
  Late potentials3 (50%)13 (32%)0.40
  Negative T-waves beyond V24 (67%)14 (34%)0.19
  Negative T-waves inferior leads2 (33%)4 (10%)0.17
Most severe spontaneous arrhythmia
  SCD/VF1 (17%)4 (10%)0.73
  Sustained VT4 (66%)21 (51%)
  Non-sustained VT1 (17%)13 (32%)
  Frequent VEs03 (7%)
Frequent VEs (>1000/24 h)3 (50%)25 (64%)0.66
Inducible Ventricular Arrhythmia
  Sustained VT5 (83%)18 (46%)0.20
  Non-sustained VT010 (26%)
  Frequent VEs1 (17%)11 (28%)
Number of VT/VPB morphologies1.5 (0.5)1.8 (0.8)0.36
Dominant VT/VPB morphology
  RVOT1 (17%)25 (61%)0.08
  other RV5 (83%)16 (39%)
Tissue characterisation
Biopsy performed281.0
  Fibro-fatty replacement00
  Fibrosis alone1 (50%)2 (25%)