Table 2.
Demographics
| Characteristics | Number of patients (%) | Age at first visit (years) | |
| Mean±SD | Range | ||
| Total subjects | 44 (100) | 17.2±14.6 | 2.4–57.4 |
| Gender | |||
| Male | 22 (50) | 16.7±15.6 | 2.4–55.0 |
| Female | 22 (50) | 17.7±13.9 | 2.4–57.4 |
| Race-ethnicity | |||
| White-Caucasian | 35 (79.5) | 17.2±14.1 | 2.4–55 |
| Hispanic | 4 (9.0) | 9.1±3.5 | 5.9–13.3 |
| Black-African American | 2 (4.5) | 14.9±3.3 | 12.6–17.3 |
| Asian | 2 (4.5) | 32.2±35.5 | 7.1–57.4 |
| Pathogenic gene mutations | |||
| TGFBR1 (LDS1) | 15 (34) | 17.4±15.2 | 3.7–55.0 |
| TGFBR2 (LDS2) | 14 (31.8) | 18.1±15.5 | 3.2–57.4 |
| SMAD3 (LDS3) | 3 (6.8) | 19.7±15.9 | 3.8–35.5 |
| TGFB2 (LDS4) | 7 (15.9) | 16.8±17.2 | 2.4–39.8 |
| TGFB3 (LDS5) | 1 (2.3) | 37.5±n/a | n/a |
| SKI (SGS) | 4 (9) | 8.4±2.3 | 5.9–10.6 |
n/a=noted for range and SD with sample size of 1.
LDS, Loeys-Dietz syndrome; 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.