Table 2.
Phenotypic characteristics of the index patients.
| Without mutation (n = 97) |
Mutation MyBPC3 (n = 20) |
Mutation MYH7 (n = 13) |
P (MyBPC3 vs MYH7) |
P (with vs without mutation) |
|
|---|---|---|---|---|---|
| Age at diagnosis (years) | 53 (16) | 46 (16) | 44 (19) | 0.97 | 0.051 |
| Age start follow up (years) | 56 (16) | 49(15) | 50 (18) | 0.86 | 0.049 |
| Males | 68% | 55% | 38% | 0.46 | 0.054 |
| Family history of HCM | 23% | 30% | 62% | 0.25 | 0.10 |
| Family history of sudden death | 16% | 15% | 31% | 0.21 | 0.42 |
| High blood pressure | 43% | 40% | 23% | 1 | 0.42 |
| NYHA initial III-IV | 10.5% | 10% | 8% | 0.60 | 0.74 |
| NYHA III-IV ever | 38% | 50% | 46% | 1 | 0,21 |
| Angina | 60% | 70% | 41% | 0.45 | 0.68 |
| Syncope | 19% | 15% | 27% | 0.64 | 1 |
| Non-sustained ventricular tachycardia | 25.3% | 42.1% | 40% | 1 | 0.10 |
| Abnormal blood pressure response | 10.8% | 31.6% | 67% | 0.9 | 0.030 |
| Maximum left ventricular wall thickness(mm) | 22 (6) | 25 (7) | 27 (8) | 0.16 | 0.001 |
| Wall thickness ≥ 30 mm | 13% | 15% | 39% | 0.95 | 0.09 |
| Shortening fraction (%) | 39 (10) | 39 (11) | 43 (10) | 0.29 | 0.67 |
| Left atrial diameter (mm) | 45 (7) | 50 (11) | 50 (14) | 0.79 | 0.038 |
| Gradient ≥ 30 mmHg | 29% | 35% | 31% | 1 | 0.89 |
Phenotypic characteristics of the index patients with mutations in MYH7, MyBPC3 and without mutations in those genes.
HCM: hypertrophic cardiomyopathy; NYHA: New York Heart Asociation functional class