Table 1. Baseline Demographic and Clinical Characteristics of 167 Patients Positive for FLNC Truncating Variants and With Follow-up Data, Stratified by Sex.
| Variable | No. of patients evaluated from cohort | Patients, No. (%) | P value | ||
|---|---|---|---|---|---|
| Overall | Male (n = 89) | Female (n = 78) | |||
| Demographic characteristic | |||||
| Proband | 167 | 55 (32.9) | 36 (40.4) | 19 (24.4) | .03 |
| White race/ethnicity | 164 | 150 (91.5) | 81 (93.1) | 69 (89.6) | .83 |
| FH of cardiomyopathya | 55 | 35 (63.6) | 21 (58.3) | 14 (73.7) | .26 |
| FH of SCDa | 55 | 30 (54.5) | 19 (52.8) | 11 (57.9) | .72 |
| FH of multiple SCDa | 55 | 16 (29.1) | 8 (22.2) | 8 (42.1) | .12 |
| Baseline clinical evaluation | |||||
| Age, mean (SD), y | 167 | 43 (18) | 45 (17) | 42 (19) | .25 |
| Aborted SCD prior to evaluation | 167 | 9 (5.4) | 8 (9.0) | 1 (1.3) | .04 |
| Dyspnea | 166 | 39 (23.5) | 20 (22.5) | 19 (24.7) | .74 |
| NYHA class III or IV | 17 (10.2) | 10 (11.2) | 7 (9.1) | ||
| Chest pain | 165 | 22 (13.3) | 15 (17.0) | 7 (9.1) | .17 |
| Syncope | 165 | 11 (6.7) | 5 (5.7) | 6 (7.8) | .76 |
| Palpitations | 165 | 36 (21.8) | 22 (25.0) | 14 (18.2) | .29 |
| Baseline ECG evaluation | |||||
| ECG rhythm | 164 | .56 | |||
| Sinus rhythm | 157 (95.7) | 84 (96.6) | 73 (94.8) | ||
| AF | 6 (3.7) | 3 (3.4) | 3 (3.9) | ||
| PR interval, mean (SD), ms | 151 | 155 (28) | 158 (26) | 151 (29) | .15 |
| LBBB QRS morphology | 156 | 7 (4.5) | 3 (3.6) | 4 (5.5) | .74 |
| QRS duration, mean (SD), ms | 155 | 97 (20) | 99 (16) | 94 (23) | .14 |
| Abnormal T-wave inversion | 159 | 38 (23.9) | 24 (28.8) | 14 (18.3) | .53 |
| Low QRS voltage limb leads | 148 | 33 (22.3) | 14 (17.5) | 19 (27.9) | .13 |
| Baseline TTE evaluation, mean (SD) | |||||
| Maximum wall thickness, mm | 131 | 9.5 (2.6) | 10.1 (2.9) | 8.6 (1.9) | .002 |
| Left atrium size PLAX view, mm | 111 | 35.8 (6.2) | 37.9 (6.2) | 33.2 (5.2) | <.001 |
| LV end-diastolic diameter, mm | 137 | 53.5 (9.7) | 55.7 (10.2) | 50.7 (8.2) | .003 |
| LV ejection fraction, % | 162 | 50.6 (15.2) | 49.8 (14.4) | 51.4 (16.1) | .51 |
| RV TAPSE, mm | 77 | 21.3 (3.7) | 21.4 (3.7) | 21.2 (3.7) | .87 |
| Baseline 24-h Holter evaluation | |||||
| NSVT first Holter | 104 | 33 (31.7) | 20 (35.1) | 13 (27.7) | .42 |
| VE burden per 24 h, median (IQR) | 64 | 197 (3-1216) | 400 (5-1343) | 161 (1-688) | .50 |
| Frequent VE (≥500 per 24 h) | 90 | 36 (40.0) | 24 (49.0) | 12 (29.3) | .06 |
| Baseline CMR evaluation, mean (SD) | |||||
| LV end-diastolic volume, mL | 71 | 185 (56) | 208 (54) | 152 (41) | <.001 |
| Ejection fraction, % | |||||
| LV | 89 | 50 (15) | 50 (15) | 50 (16) | .95 |
| RV | 66 | 55 (11) | 54 (9) | 57 (13) | .39 |
| Late gadolinium enhancement | 91 | 50 (54.9) | 37 (64.9) | 13 (38.2) | .01 |
| Extra-cardiac phenotype baseline evaluation | |||||
| CK, median (IQR), U/L | 56 | 79 (59-124) | 85 (64-146) | 73 (57-103) | .09 |
Abbreviations: AF, atrial fibrillation; CK, creatine kinase; CMR, cardiac magnetic resonance; ECG, electrocardiogram; FH, family history; IQR, interquartile range; LBBB, left bundle branch block; LV, left ventricular; NSVT, nonsustained ventricular tachycardia; NYHA, New York Heart Association; PLAX, parasternal long axis; RV, right ventricular; SCD, sudden cardiac death; TAPSE, tricuspid annular plane systolic excursion; TTE, transthoracic echocardiogram; VE, ventricular ectopy.
SI conversion factor: To convert CK to microkatals per liter, multiply by 0.0167.
a
Probands evaluated only for family history.