Table 1.
MYBPC3 c.2149–1G>A and MYBPC3 p.Arg502Tr/Gln comparison
|
MYBPC3 c.2149–1G>A |
MYBP3 p.Arg502Trp/Gln |
P value | |||||
| Male | Female | Total | Male | Female | Total | ||
| N | 15 | 5 | 20 | 17 | 7 | 24 | |
| Age at diagnosis (mean±SD, years) | 32±13 | 53±10 | 37±15 | 28±20 | 50±19 | 35±21 | 0.650* |
| Max. LVWT TTE (mean±SD, mm) | 21±6 | 22±6 | 21±6 | 21±7 | 21±6 | 21±7 | 0.645 |
| Max. LVWT CMR (mean±SD, mm) | 19±4 | 18±3 | 19±5 | 20±6 | 19±5 | 20±6 | 0.981 |
| LVEF (mean±SD, %) | 63±9 | 62±10 | 63±9 | 54±15 | 51±16 | 54±15 | 0.032 |
| Left atrial diameter (mm) | 44±9 | 42±8 | 44±9 | 41±8 | 44±8 | 42±8 | 0.210 |
| LVOTO ≥30 mm Hg (%) | 3 (20.0) | 0 | 3 (15.0) | 3 (17.6) | 0 | 3 (12.5) | 0.760 |
| Severe LVOTO ≥50 mm Hg (%) | 2 (13.3) | 0 | 2 (10.0) | 2 (11.7) | 0 | 2 (8.4) | 0.800 |
| LGE (%) | 10 (66.7) | 5 (100.0) | 15 (75.0) | 12 (70.6) | 6 (85.7) | 18 (75.0) | 0.550 |
| Diagnostic reason | 0.242 | ||||||
| Symptoms (%) | 6 (40.0) | 0 | 6 (30.0) | 5 (29.4) | 2 (28.6) | 7 (29.2) | |
| Aborted cardiac arrest (%) | 0 | 0 | 0 | 1 (5.9) | 0 | 1 (4.2) | |
| Familiar screening (%) | 8 (53.3) | 5 (100.0) | 13 (65.0) | 5 (29.4) | 3 (42.1) | 8 (33.3) | |
| Casual (%) | 1 (6.7) | 0 | 1 (5.0) | 6 (35.3) | 1 (14.2) | 7 (29.2) | |
| Symptoms at diagnosis | 0.210 | ||||||
| Asymptomatic (%) | 9 (60.0) | 4 (80.0) | 13 (65.0) | 12 (70.6) | 3 (42.1) | 15 (62.5) | |
| Dyspnoea (%) | 2 (13.3) | 1 (20.0) | 3 (15.0) | 4 (23.5) | 2 (28.6) | 6 (25.0) | |
| Syncope (%) | 1 (6.7) | 0 | 1 (5.0) | 0 | 0 | 0 | |
| Chest pain (%) | 0 | 0 | 0 | 1 (5.9) | 0 | 1 (4.1) | |
| Palpitations (%) | 3 (20.0) | 0 | 3 (15.0) | 0 | 0 | 0 | |
| NYHA functional class | 0.049 | ||||||
| I (%) | 11 (73.3) | 4 (80.0) | 15 (75.0) | 7 (41.2) | 1 (14.3) | 8 (33.3) | |
| II (%) | 3 (20.0) | 1 (20.0) | 4 (20.0) | 7 (41.2) | 4 (57.1) | 11 (45.9) | |
| III (%) | 1 (6.7) | 0 | 1 (5.0) | 2 (11.7) | 1 (14.3) | 3 (12.5) | |
| ABPR (%) | 0 | 0 | 0 | 3 (17.6) | 1 (14.3) | 4 (16.7) | 0.053 |
| Atrial fibrillation (%) | 4 (26.7) | 0 | 4 (20.0) | 4 (23.5) | 2 (28.6) | 6 (25.0) | 0.723 |
| NSVT (%) | 4 (26.7) | 3 (60.0) | 7 (35.0) | 6 (35.3) | 2 (28.6) | 8 (33.3) | 0.540 |
| SCD score | 0.119 | ||||||
| >4 (%) | 7 (46.7) | 1 (20.0) | 8 (40.0) | 4 (23.5) | 1 (14.3) | 5 (20.9) | 0.152 |
| >6 (%) | 3 (20.0) | 0 | 3 (15.0) | 2 (11.7) | 0 | 2 (8.4) | 0.300 |
| ICD indication | 0.874 | ||||||
| Primary prevention (%) | 5 (33.3) | 1 (20.0) | 6 (30.0) | 6 (35.3) | 3 (42.1) | 9 (37.5) | |
| Secondary prevention (%) | 1 (6.7) | 0 | 1 (5.0) | 2 (11.7) | 0 | 2 (8.4) | |
*Log-rank estimate.
ABPR, abnormal blood pressure response to exercise; CMR, cardiac MR; ICD, implantable cardioverter defibrillator; LGE, late gadolinium enhancement; LVEF, left ventricle ejection fraction; LVOTO, left ventricular outflow tract obstruction; LVWT, left ventricular wall thickness; NSVT, non-sustained ventricular tachycardia; NYHA, New York Heart Association; SCD, sudden cardiac death; TTE, transthoracic echocardiography.