Table 1.
Characteristics of HCM patients participating in MedSeq who underwent multi-gene HCM panel testing and WGS (n=41)
| Mean Age (SD), years | 58 (12) |
| Female, n (%) | 22 (54%) |
| Caucasian, n (%) | 39 (95%) |
| Family history of HCM, n (%) | 17 (42%) |
| Atrial fibrillation, n (%) | 10 (24%) |
| End stage HCM/HF death/transplant | 4 (10%) |
| Sudden cardiac arrest/death | 5/41 (12.2%) |
| Mean Maximal left ventricular wall thickness, mm (SD) | 17.2 (4.3) |
| Mean left ventricular ejection fraction, % (SD) | 62.2 (14.6) |
| New York Heart Association Functional Class | |
| I | 19 (63%) |
| II | 11 (36%) |
| III | 1 (3%) |
| Sarcomere genes implicated by targeted HCM genetic testing | 18/41 (44%) |
| MYBPC3, n (%) | 10 (56%) |
| MYH7, n (%) | 5 (28%) |
| TNNI3, n (%) | 1 (6%) |
| MYL2, n (%) | 1 (6%) |
| ACTN2, n (%) | 1 (6%) |
Age and maximal left ventricular wall thickness are presented as mean and standard deviation (SD), left ventricular ejection fraction as mean percentage and standard deviation (SD) and categorical variables as numbers (n) and percentages. HCM, hypertrophic cardiomyopathy; MYBPC3, Myosin binding protein C; MYH7, Cardiac β-myosin heavy chain; TNNI3, Troponin I; MYL2, Myosin Light Chain 2; ACTN2, Actinin Alpha 2