Table 2. Baseline Demographic and Clinical Characteristics of 313 Patients With DCM (69 With FLNCtv and 244 With TTNtv) and With Impaired LVEF at Baseline Evaluation.
| Characteristic | No. of patients evaluated from cohort (n = 313) | Patients, No. (%) | P value | ||
|---|---|---|---|---|---|
| Overall | FLNCtv (n = 69) | TTNtv (n = 244) | |||
| Demographic data | |||||
| White race/ethnicity | 310 | 276 (89.0) | 61 (92.4) | 215 (88.1) | .50 |
| Proband | 313 | 234 (74.8) | 46 (66.7) | 188 (77.0) | .08 |
| Male sex | 313 | 208 (66.5) | 39 (56.5) | 169 (69.3) | .048 |
| FH of cardiomyopathya | 234 | 131 (56.0) | 30 (65.2) | 101 (53.7) | .16 |
| FH of SCDa | 234 | 71 (30.3) | 24 (52.2) | 47 (25.0) | <.001 |
| FH of multiple SCDa | 234 | 24 (10.3) | 13 (28.3) | 11 (5.9) | <.001 |
| Baseline clinical evaluation | |||||
| Age, mean (SD), y | 313 | 48 (16) | 49 (18) | 48 (15) | .76 |
| Dyspnea | 307 | 205 (66.8) | 35 (51.5) | 170 (71.1) | .002 |
| NYHA class III or IV | 104 (33.9) | 16 (23.5) | 88 (36.8) | ||
| Chest pain | 307 | 52 (16.9) | 15 (22.1) | 37 (15.5) | .20 |
| Syncope | 307 | 16 (5.2) | 5 (7.4) | 11 (4.6) | .37 |
| Palpitations | 307 | 95 (30.9) | 24 (35.3) | 71 (29.7) | .38 |
| Baseline ECG evaluation | |||||
| ECG rhythm | 305 | .03 | |||
| Sinus rhythm | 265 (86.9) | 63 (92.6) | 202 (85.2) | ||
| AF | 39 (12.8) | 4 (5.9) | 35 (14.8) | ||
| PR interval, mean (SD), ms | 225 | 169 (33) | 154 (32) | 173 (32) | <.001 |
| LBBB QRS morphology | 300 | 28 (9.3) | 7 (10.6) | 21 (9.0) | .69 |
| QRS duration, mean (SD), ms | 250 | 103 (22) | 108 (20) | 102 (22) | .08 |
| Abnormal T-wave inversion | 293 | 114 (38.9) | 31 (45.6) | 83 (36.9) | .20 |
| Low QRS voltage limb leads | 290 | 49 (16.9) | 20 (33.9) | 29 (12.6) | <.001 |
| Baseline TTE evaluation, mean (SD) | |||||
| Maximum wall thickness, mm | 261 | 9.5 (1.8) | 9.3 (1.8) | 9.6 (1.8) | .28 |
| Left atrium size PLAX view, mm | 213 | 40.4 (7.7) | 37.5 (7.3) | 41.2 (7.7) | .004 |
| LV end-diastolic diameter, mm | 254 | 60.1 (8.9) | 60.2 (9.8) | 60.0 (8.7) | .92 |
| LV ejection fraction TTE, % | 313 | 31.9 (11.5) | 36.2 (11.1) | 30.6 (11.3) | <.001 |
| RV TAPSE, mm | 146 | 18.2 (4.9) | 19.8 (4.0) | 17.6 (5.0) | .01 |
| Baseline 24-h Holter evaluation | |||||
| NSVT first Holter | 199 | 100 (50.3) | 22 (47.8) | 78 (51.0) | .71 |
| VE burden per 24 h, median (IQR) | 113 | 469 (32-2419) | 1142 (488-2105) | 250 (19-2513) | .08 |
| Frequent VE (≥500 per 24 h) | 131 | 64 (48.9) | 24 (70.6) | 40 (41.2) | .003 |
| Baseline CMR evaluation, mean (SD) | |||||
| LV end-diastolic volume | 124 | 231 (81) | 217 (60) | 236 (87) | .19 |
| Ejection fraction, % | |||||
| LV CMR | 156 | 36 (13) | 37 (12) | 36 (13) | .47 |
| RV | 112 | 49 (14) | 50 (14) | 49 (14) | .62 |
| Late gadolinium enhancement | 156 | 100 (64.1) | 35 (83.3) | 65 (57.0) | .002 |
| Extra-cardiac phenotype baseline evaluation | |||||
| CK, median (IQR), U/L | 88 | 88 (61-132) | 80 (58-114) | 100 (73-175) | .08 |
Abbreviations: AF, atrial fibrillation; CK, creatine kinase; CMR, cardiac magnetic resonance; DCM, dilated cardiomyopathies; ECG, electrocardiogram; FH, family history; FLNCtv, FLNC truncating variants; IQR, interquartile range; LBBB, left bundle branch block; LV, left ventricular; LVEF, left ventricular ejection fraction; NSVT, nonsustained ventricular tachycardia; NYHA, New York Heart Association; PLAX, parasternal long axis; RV, right ventricular; TAPSE, tricuspid annular plane systolic excursion; TTE, transthoracic echocardiogram; TTNtvs, TTN truncating variants; VE, ventricular ectopy.
SI conversion factor: To convert CK to microkatals per liter, multiply by 0.0167.
a
Probands evaluated only for family history.