Table 1.
Demographics of study population
| Characteristics | No. of patients (%) | Age at first visit (years) | |
| Mean±SD | Range | ||
| Total subjects | 40 (100) | 18.05±15.0 | 2.4–57.4 |
| Gender | |||
| Male | 20 (50.0) | 17.5±16.0 | 2.4–55.0 |
| Female | 20 (50.0) | 18.6±14.3 | 2.4–57.4 |
| Pathogenic gene mutations | |||
| Loeys-Dietz syndrome (LDS) | |||
| TGFBR1 (LDS1) | 15 (37.5) | 17.4±15.2 | 3.7–55.0 |
| TGFBR2 (LDS2) | 14 (35) | 18.1±15.5 | 3.2–57.4 |
| SMAD3 (LDS3) | 3 (7.5) | 19.7±15.9 | 3.8–35.5 |
| TGFB2 (LDS4) | 7 (17.5) | 16.8±17.2 | 2.4–39.8 |
| TGFB3 (LDS5) | 1 (2.5) | 37.5±n/a | n/a |
n/a, noted for range and SD with sample size of 1; SMAD3, signal transducer in transforming growth factor-beta; TGFB2, transforming growth factor-beta 2; TGFB3, transforming growth factor-beta 3; TGFBR1, transforming growth factor-beta receptor 1; TGFBR2, transforming growth factor-beta receptor 2.