pISSN 2234-3806eISSN 2234-3814
Table. 1.
Clinical characteristics of patients with HCM carrying the spliceogenic c.1224-80G>A variant in MYBPC3
| Characteristics | Patient 1 | Patient 2 | Patient 3 |
|---|---|---|---|
| Age at first observation (yrs) | 56 | 74 | 60 |
| Sex | Female | Male | Male |
| Familial history | No | Yes | Yes |
| Symptoms | |||
| NYHA class | - | II | - |
| Imaging | |||
| LV thickness (mm) | 13 | 27 | 14 |
| Obstruction (type) | No (SAM) | Yes (LVOT gradient=50 mmHg) | No |
Abbreviations: HCM, hypertrophic cardiomyopathy; NYHA, New York Heart Association; LV thickness, left ventricular thickness; SAM, systolic anterior motion of the mitral valve; LVOT gradient, left ventricular outflow tract gradient.
Ann Lab Med 2025;45:96~100 https://doi.org/10.3343/alm.2024.0201
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