Table 1.
Demographic, clinical, and CMR data for the entire cohort, comparing subjects with and without left ventricular (LV) involvement at CMR
| All (n = 73) | No LV Involvement (n = 36) | LV Involvement (n = 37) | p-value | |
|---|---|---|---|---|
| Demographics and clinical data | ||||
| Age (years) | 34.2 ± 13.5 | 34.8 ± 15.7 | 33.6 ± 11.2 | 0.81 |
| Male sex (%) | 37 (50.7) | 16 (44.4) | 21 (56.8) | 0.35 |
| Mutation positive (%) | 35 (48.0) | 17 (47.2) | 18 (48.7) | 1.00 |
| PKP2 (%) | 30 (41.1) | 17 (47.2) | 13 (35.1) | 0.39 |
| DSP (%) | 1 (1.4) | 0 (0) | 1 (2.7) | |
| DSC2 (%) | 0 (0) | 0 (0) | 0 (0) | |
| DSG2 (%) | 1 (1.4) | 0 (0) | 1 (2.7) | |
| PLN (%) | 1 (1.4) | 0 (0) | 1 (2.7) | |
| Compounda (%) | 2 (2.7) | 0 (0) | 2 (5.4) | |
| Proband (%) | 41 (56.2) | 14 (39.0) | 27 (73.0) | 0.005 |
| TFC points | 6 (IQR 5–7) | 5 (IQR 4–6.5) | 7 (IQR 5–8) | 0.001 |
| CMR findings | ||||
| RVEDVI (mL/m2) | 106.7 ± 31.0 | 101.5 ± 26.1 | 111.9 ± 34.6 | 0.19 |
| RVEF (%) | 41.7 ± 10.0 | 46.3 ± 8.7 | 37.2 ± 9.2 | < 0.001 |
| LVEDVI (mL/m2) | 89.3 ± 19.8 | 87.9 ± 17.8 | 90.5 ± 21.6 | 0.45 |
| LVEF (%) | 54.1 ± 6.6 | 57.9 ± 4.3 | 50.3 ± 6.5 | < 0.001 |
| RV-LGE (% with any RV LGE) | 13 (17.8) | 6 (16.7) | 7 (18.9) | 1.00 |
| RV Fat (% with any RV fat) | 22 (30.1) | 9 (25.0) | 13 (35.1) | 0.45 |
| RV-WMA (% with any RV WMA) | 54 (74.0) | 20 (55.6) | 34 (91.9) | < 0.001 |
LV left ventricle, TFC task force criteria, CMR cardiovascular magnetic resonance imaging, RVEDVI right ventricular end-diastolic volume indexed to body surface area, RVEF right ventricular ejection fraction, LVEDVI LV end-diastolic volume indexed to body surface area, LVEF LV ejection fraction, RV-LGE right ventricular late gadolinium enhancement, RV fat right ventricular fat, RV-WMA right ventricular wall motion abnormality
aOne patient had both a PKP2 and a DSP mutation. A second patient had two different DSG2 mutations in trans (compound heterozygous)