Table 1

Clinical Characteristics

Controls
(n = 84)
Subclinical Stage
(n = 21)
Electrical Stage
(n = 15)
Structural Stage
(n = 48)
p Value
All GroupsMutation
Carriers
Age, yrs40.5 ± 14.927.2 ± 13.939.9 ± 17.444.6 ± 19.4<0.001<0.001
Male35 (42)8 (38)3 (20)26 (54)0.1140.055
Proband0 (0)0 (0)30 (63)<0.001
ARVC diagnosis0 (0)5 (33)48 (100)<0.001
2010 TFC (major or minor)
 Structural criteria0 (0)0 (0)0 (0)48 (100)
 Depolarization criteria0 (0)0 (0)12 (80)33 (69)
 Repolarization criteria0 (0)0 (0)5 (33)39 (81)
 Arrhythmias criteria-0 (0)5 (33)43 (90)
 Pathogenic mutation-21 (100)15 (100)48 (100)
CMR
 RV WMA0 (0)0 (0)1 (7)35 (100)§<0.001<0.001
 RV-EDV, ml/m298 (92–110)88 (75–102)96 (89–102)130 (108–167)§<0.001<0.001
 RVEF, %54 (51–56)56 (50–63)54 (48–57)33 (26–41)§<0.001<0.001
 LVEF, %57.7 ± 5.358.1 ± 4.057.1 ± 7.154.5 ± 9.00.5450.314
 Presence of LE0 (0)0 (0)21 (60)<0.001
Echocardiography
 RV WMA01 (5)1 (7)45 (94)§<0.001<0.001
 PLAX RVOT, mm/m215.3 ± 2.414.6 ± 2.515.5 ± 2.719.1 ± 3.9§<0.001<0.001
 PSAX RVOT, mm/m216.9 ± 2.415.9 ± 3.016.0 ± 2.419.5 ± 4.1§<0.001<0.001
 RV-FAC, %44.1 ± 6.747.0 ± 7.043.1 ± 6.330.8 ± 8.9§<0.001<0.001
 LVEF, %58.7 ± 4.658.5 ± 4.457.7 ± 7.456.0 ± 7.5§0.0950.001

Values are mean ± SD, n (%), or median (interquartile range).

ARVC = arrhythmogenic right ventricular cardiomyopathy; CMR = cardiac magnetic resonance imaging; EDV = end-diastolic volume; FAC = fractional area change; LE = late enhancement; LVEF = left ventricular ejection fraction; PLAX/PSAX = parasternal long-/short-axis view; RV = right ventricle; RVEF = right ventricular ejection fraction; RVOT = right ventricular outflow tract; TFC = International Task Force criteria; WMA = wall motion abnormality.

  • ARVC diagnosis was based on fulfilling either 2 major, 1 major and 2 minor, or 4 minor 2010 TFC.

  • CMR data were available in a subgroup of 35 control subjects.

  • Wall motion abnormality was noted if akinesia, dyskinesia, or aneurysm was present.

  • § p < 0.05 versus age- and sex-matched controls (Bonferroni correction).