Table 2.
Phenotypes in Carriers of Pathogenic/Likely Pathogenic Variants Associated with Arrhythmogenic Right Ventricular Cardiomyopathy
| Carriers (N=18) | Noncarriers (N=90) | P value | |
|---|---|---|---|
| Demographics | |||
| Age, years | 69.4 ± 5.7 | 69.4 ± 5.6 | NA |
| Female | 10 (56%) | 50 (56%) | |
| Genetic ancestry | |||
| European | 9 (50%) | 45 (50%) | |
| African | 9 (50%) | 45 (50%) | |
| Imaging | |||
| Individuals with TTE or CMR | 16 (89%) | 76 (84%) | 1 |
| TF major imaging criteria | 0 | 0 | NA |
| TF minor imaging criteria | 0 | 0 | NA |
| Electrocardiogram | |||
| Individuals with electrocardiogram | 15 (83%) | 84 (93%) | 0.2 |
| TF major electrocardiogram criteria | 3 (20%) | 3 (4%) | 0.04 |
| TF minor electrocardiogram criteria | 6 (40%) | 24 (29%) | 0.4 |
| Arrhythmias | |||
| Individuals with Holter monitor | 4 (22%) | 11 (12%) | 0.3 |
| >500 PVCs in 24 hours | 2 (50%) | 3 (27%) | 0.6 |
| TF major NSVT/VT criteria | 0 | 0 | NA |
| TF minor NSVT/VT criteria | 7 (39%) | 16 (18%) | 0.06 |
| Pathology | |||
| Individuals with right ventricular tissue sample | 2 (11%) | 6 (7%) | 0.6 |
| TF major pathology criteria | 1 (50%) | 0 | 0.3 |
| TF minor pathology criteria | 0 | 0 | NA |
| Family history | |||
| TF major criteria (excluding G+) | 0 | 0 | NA |
| TF minor criteria | 1 (6%) | 0 | 0.2 |
| TF diagnostic categories | |||
| None | 0 | 82 (91%) | 2×10 −16 * |
| Possible | 7 (39%) | 8 (9%) | |
| Borderline | 5 (28%) | 0 | |
| Definite | 6 (33%) | 0 | |
| Other findings | |||
| Any right ventricular dysfunction | 4 (25%) | 9 (10%) | 0.2 |
| Nonischemic cardiomyopathy | 4 (22%) | 11 (12%) | 0.3 |
| Syncope | 3 (17%) | 10 (11%) | 0.5 |
| Atrial fibrillation/flutter | 8 (44%) | 29 (32%) | 0.4 |
| Implantable cardioverter-defibrillator | 4 (22%) | 12 (13%) | 0.5 |
| Obstructive coronary artery disease | 8 (44%) | 57 (63%) | 0.2 |
Continuous measures are described as mean ± standard deviation. Categorical variables are described as N (%); p values are calculated using Fisher’s exact test for dichotomous variables and Wilcoxon rank-sum test for ordinal variables (indicated by *). P values in bold indicate p <0.05. CMR, cardiac magnetic resonance imaging; G+, genotype positivity; NA, not applicable; NSVT, nonsustained ventricular tachycardia; PVC, premature ventricular contraction; TF, 2010 Task Force; TTE, transthoracic echocardiogram; VT, ventricular tachycardia.