| . | Overall (n = 429) . | Non-sustained VA (n = 326) . | Sustained VA (n = 103) . | P-value . |
|---|---|---|---|---|
| Demographics and genetics | ||||
| Age at diagnosis (years) | 43.1 ± 15.8 | 44.1 ± 15.7 | 40.1 ± 16.0 | 0.025 |
| Male sex | 235 (54.8) | 159 (48.8) | 76 (73.8) | <0.001 |
| Proband status | 278 (64.8) | 197 (60.4) | 81 (78.6) | 0.001 |
| (Likely) pathogenic variants (n = 282) | 198 (46.2) | 150 (46.0) | 48 (46.6) | 0.480 |
| Genotype | 0.302 | |||
| PKP2 | 111 (25.6) | 84 (25.8) | 27 (26.2) | |
| DSP | 38 (8.9) | 33 (10.1) | 5 (4.9) | |
| DSG2 | 27 (6.3) | 22 (6.7) | 5 (4.9) | |
| DSC2 | 3 (0.7) | 1 (0.3) | 2 (1.9) | |
| JUP | 0 (0.0) | 0 (0.0) | 0 (0.0) | |
| TMEM43 | 10 (2.3) | 4 (1.2) | 6 (5.8) | |
| PLN | 3 (0.7) | 3 (0.9) | 0 (0.0) | |
| Multiple mutations | 6 (1.4) | 3 (0.9) | 3 (2.9) | |
| Clinical history | ||||
| Recent cardiac syncope (n = 424) | 37 (8.6) | 16 (4.9) | 21 (20.4) | <0.001 |
| ECG/continuous ECG monitoring | ||||
| TWI in ≥3 precordial leads (n = 409) | 250 (58.3) | 187 (57.4) | 63 (61.2) | 0.295 |
| TWI in ≥2 inferior leads (n = 403) | 109 (25.4) | 81 (24.8) | 28 (27.2) | 0.589 |
| PVC count (n = 324) | 1434 (439–3601) | 1354 (400–3719) | 1676 (602–3492) | 0.160 |
| NSVT (n = 359) | 148 (34.5) | 105 (32.2) | 43 (41.7) | 0.001 |
| Imaging | ||||
| RVEF (%) (n = 410) | 45 (36–53) | 47 (38–53) | 40 (35–48.5) | <0.001 |
| LVEF (%) (n = 404) | 57 (51–60) | 57 (51–61) | 57 (50–60) | 0.049 |
| Treatment at baseline | ||||
| ICD | 175 (40.8) | 113 (34.7) | 62 (60.2) | <0.001 |
| Anti-arrhythmic drugs (n = 408) | 0.041 | |||
| Amiodarone | 23 (6.0) | 16 (4.9) | 10 (9.8) | |
| Sotalol | 79 (18.4) | 55 (16.9) | 24 (23.3) | |
| Propafenone/flecainide | 15 (3.5) | 9 (2.8) | 6 (5.8) | |
| β-blockers (n = 407) | 206 (48.0) | 156 (47.9) | 50 (48.5) | 0.50 |
| Follow-up | 5.02 (2.05–7.90) | 4.48 (1.86–7.32) | 6.12 (2.60–10.08) | 0.002 |
| . | Overall (n = 429) . | Non-sustained VA (n = 326) . | Sustained VA (n = 103) . | P-value . |
|---|---|---|---|---|
| Demographics and genetics | ||||
| Age at diagnosis (years) | 43.1 ± 15.8 | 44.1 ± 15.7 | 40.1 ± 16.0 | 0.025 |
| Male sex | 235 (54.8) | 159 (48.8) | 76 (73.8) | <0.001 |
| Proband status | 278 (64.8) | 197 (60.4) | 81 (78.6) | 0.001 |
| (Likely) pathogenic variants (n = 282) | 198 (46.2) | 150 (46.0) | 48 (46.6) | 0.480 |
| Genotype | 0.302 | |||
| PKP2 | 111 (25.6) | 84 (25.8) | 27 (26.2) | |
| DSP | 38 (8.9) | 33 (10.1) | 5 (4.9) | |
| DSG2 | 27 (6.3) | 22 (6.7) | 5 (4.9) | |
| DSC2 | 3 (0.7) | 1 (0.3) | 2 (1.9) | |
| JUP | 0 (0.0) | 0 (0.0) | 0 (0.0) | |
| TMEM43 | 10 (2.3) | 4 (1.2) | 6 (5.8) | |
| PLN | 3 (0.7) | 3 (0.9) | 0 (0.0) | |
| Multiple mutations | 6 (1.4) | 3 (0.9) | 3 (2.9) | |
| Clinical history | ||||
| Recent cardiac syncope (n = 424) | 37 (8.6) | 16 (4.9) | 21 (20.4) | <0.001 |
| ECG/continuous ECG monitoring | ||||
| TWI in ≥3 precordial leads (n = 409) | 250 (58.3) | 187 (57.4) | 63 (61.2) | 0.295 |
| TWI in ≥2 inferior leads (n = 403) | 109 (25.4) | 81 (24.8) | 28 (27.2) | 0.589 |
| PVC count (n = 324) | 1434 (439–3601) | 1354 (400–3719) | 1676 (602–3492) | 0.160 |
| NSVT (n = 359) | 148 (34.5) | 105 (32.2) | 43 (41.7) | 0.001 |
| Imaging | ||||
| RVEF (%) (n = 410) | 45 (36–53) | 47 (38–53) | 40 (35–48.5) | <0.001 |
| LVEF (%) (n = 404) | 57 (51–60) | 57 (51–61) | 57 (50–60) | 0.049 |
| Treatment at baseline | ||||
| ICD | 175 (40.8) | 113 (34.7) | 62 (60.2) | <0.001 |
| Anti-arrhythmic drugs (n = 408) | 0.041 | |||
| Amiodarone | 23 (6.0) | 16 (4.9) | 10 (9.8) | |
| Sotalol | 79 (18.4) | 55 (16.9) | 24 (23.3) | |
| Propafenone/flecainide | 15 (3.5) | 9 (2.8) | 6 (5.8) | |
| β-blockers (n = 407) | 206 (48.0) | 156 (47.9) | 50 (48.5) | 0.50 |
| Follow-up | 5.02 (2.05–7.90) | 4.48 (1.86–7.32) | 6.12 (2.60–10.08) | 0.002 |
Variables are expressed as frequency (%), mean ± standard deviation, or median (interquartile range). Total number of patients with available data for a given variable are mentioned in parenthesis for variables with missing data.
DSC2, desmocollin-2; DSG2, desmoglein-2; DSP, desmoplakin; ICD, implantable cardioverter-defibrillator; LVEF, left ventricular ejection fraction; NSVT, non-sustained ventricular tachycardia; JUP, junction plakoglobin; PKP2, plakophilin-2; PLN, phospholamban; PVC, premature ventricular complex; RVEF, right ventricular ejection fraction; TMEM43, transmembrane protein 43; TWI, T-wave inversion; VA, ventricular arrhythmia.
| . | Overall (n = 429) . | Non-sustained VA (n = 326) . | Sustained VA (n = 103) . | P-value . |
|---|---|---|---|---|
| Demographics and genetics | ||||
| Age at diagnosis (years) | 43.1 ± 15.8 | 44.1 ± 15.7 | 40.1 ± 16.0 | 0.025 |
| Male sex | 235 (54.8) | 159 (48.8) | 76 (73.8) | <0.001 |
| Proband status | 278 (64.8) | 197 (60.4) | 81 (78.6) | 0.001 |
| (Likely) pathogenic variants (n = 282) | 198 (46.2) | 150 (46.0) | 48 (46.6) | 0.480 |
| Genotype | 0.302 | |||
| PKP2 | 111 (25.6) | 84 (25.8) | 27 (26.2) | |
| DSP | 38 (8.9) | 33 (10.1) | 5 (4.9) | |
| DSG2 | 27 (6.3) | 22 (6.7) | 5 (4.9) | |
| DSC2 | 3 (0.7) | 1 (0.3) | 2 (1.9) | |
| JUP | 0 (0.0) | 0 (0.0) | 0 (0.0) | |
| TMEM43 | 10 (2.3) | 4 (1.2) | 6 (5.8) | |
| PLN | 3 (0.7) | 3 (0.9) | 0 (0.0) | |
| Multiple mutations | 6 (1.4) | 3 (0.9) | 3 (2.9) | |
| Clinical history | ||||
| Recent cardiac syncope (n = 424) | 37 (8.6) | 16 (4.9) | 21 (20.4) | <0.001 |
| ECG/continuous ECG monitoring | ||||
| TWI in ≥3 precordial leads (n = 409) | 250 (58.3) | 187 (57.4) | 63 (61.2) | 0.295 |
| TWI in ≥2 inferior leads (n = 403) | 109 (25.4) | 81 (24.8) | 28 (27.2) | 0.589 |
| PVC count (n = 324) | 1434 (439–3601) | 1354 (400–3719) | 1676 (602–3492) | 0.160 |
| NSVT (n = 359) | 148 (34.5) | 105 (32.2) | 43 (41.7) | 0.001 |
| Imaging | ||||
| RVEF (%) (n = 410) | 45 (36–53) | 47 (38–53) | 40 (35–48.5) | <0.001 |
| LVEF (%) (n = 404) | 57 (51–60) | 57 (51–61) | 57 (50–60) | 0.049 |
| Treatment at baseline | ||||
| ICD | 175 (40.8) | 113 (34.7) | 62 (60.2) | <0.001 |
| Anti-arrhythmic drugs (n = 408) | 0.041 | |||
| Amiodarone | 23 (6.0) | 16 (4.9) | 10 (9.8) | |
| Sotalol | 79 (18.4) | 55 (16.9) | 24 (23.3) | |
| Propafenone/flecainide | 15 (3.5) | 9 (2.8) | 6 (5.8) | |
| β-blockers (n = 407) | 206 (48.0) | 156 (47.9) | 50 (48.5) | 0.50 |
| Follow-up | 5.02 (2.05–7.90) | 4.48 (1.86–7.32) | 6.12 (2.60–10.08) | 0.002 |
| . | Overall (n = 429) . | Non-sustained VA (n = 326) . | Sustained VA (n = 103) . | P-value . |
|---|---|---|---|---|
| Demographics and genetics | ||||
| Age at diagnosis (years) | 43.1 ± 15.8 | 44.1 ± 15.7 | 40.1 ± 16.0 | 0.025 |
| Male sex | 235 (54.8) | 159 (48.8) | 76 (73.8) | <0.001 |
| Proband status | 278 (64.8) | 197 (60.4) | 81 (78.6) | 0.001 |
| (Likely) pathogenic variants (n = 282) | 198 (46.2) | 150 (46.0) | 48 (46.6) | 0.480 |
| Genotype | 0.302 | |||
| PKP2 | 111 (25.6) | 84 (25.8) | 27 (26.2) | |
| DSP | 38 (8.9) | 33 (10.1) | 5 (4.9) | |
| DSG2 | 27 (6.3) | 22 (6.7) | 5 (4.9) | |
| DSC2 | 3 (0.7) | 1 (0.3) | 2 (1.9) | |
| JUP | 0 (0.0) | 0 (0.0) | 0 (0.0) | |
| TMEM43 | 10 (2.3) | 4 (1.2) | 6 (5.8) | |
| PLN | 3 (0.7) | 3 (0.9) | 0 (0.0) | |
| Multiple mutations | 6 (1.4) | 3 (0.9) | 3 (2.9) | |
| Clinical history | ||||
| Recent cardiac syncope (n = 424) | 37 (8.6) | 16 (4.9) | 21 (20.4) | <0.001 |
| ECG/continuous ECG monitoring | ||||
| TWI in ≥3 precordial leads (n = 409) | 250 (58.3) | 187 (57.4) | 63 (61.2) | 0.295 |
| TWI in ≥2 inferior leads (n = 403) | 109 (25.4) | 81 (24.8) | 28 (27.2) | 0.589 |
| PVC count (n = 324) | 1434 (439–3601) | 1354 (400–3719) | 1676 (602–3492) | 0.160 |
| NSVT (n = 359) | 148 (34.5) | 105 (32.2) | 43 (41.7) | 0.001 |
| Imaging | ||||
| RVEF (%) (n = 410) | 45 (36–53) | 47 (38–53) | 40 (35–48.5) | <0.001 |
| LVEF (%) (n = 404) | 57 (51–60) | 57 (51–61) | 57 (50–60) | 0.049 |
| Treatment at baseline | ||||
| ICD | 175 (40.8) | 113 (34.7) | 62 (60.2) | <0.001 |
| Anti-arrhythmic drugs (n = 408) | 0.041 | |||
| Amiodarone | 23 (6.0) | 16 (4.9) | 10 (9.8) | |
| Sotalol | 79 (18.4) | 55 (16.9) | 24 (23.3) | |
| Propafenone/flecainide | 15 (3.5) | 9 (2.8) | 6 (5.8) | |
| β-blockers (n = 407) | 206 (48.0) | 156 (47.9) | 50 (48.5) | 0.50 |
| Follow-up | 5.02 (2.05–7.90) | 4.48 (1.86–7.32) | 6.12 (2.60–10.08) | 0.002 |
Variables are expressed as frequency (%), mean ± standard deviation, or median (interquartile range). Total number of patients with available data for a given variable are mentioned in parenthesis for variables with missing data.
DSC2, desmocollin-2; DSG2, desmoglein-2; DSP, desmoplakin; ICD, implantable cardioverter-defibrillator; LVEF, left ventricular ejection fraction; NSVT, non-sustained ventricular tachycardia; JUP, junction plakoglobin; PKP2, plakophilin-2; PLN, phospholamban; PVC, premature ventricular complex; RVEF, right ventricular ejection fraction; TMEM43, transmembrane protein 43; TWI, T-wave inversion; VA, ventricular arrhythmia.
This PDF is available to Subscribers Only
View Article Abstract & Purchase OptionsFor full access to this pdf, sign in to an existing account, or purchase an annual subscription.
