Table 2

Demographics

CharacteristicsNumber of patients (%)Age at first visit (years)
Mean±SDRange
Total subjects44 (100)17.2±14.62.4–57.4
Gender
Male22 (50)16.7±15.62.4–55.0
Female22 (50)17.7±13.92.4–57.4
Race-ethnicity
White-Caucasian35 (79.5)17.2±14.12.4–55
Hispanic4 (9.0)9.1±3.55.9–13.3
Black-African American2 (4.5)14.9±3.312.6–17.3
Asian2 (4.5)32.2±35.57.1–57.4
Pathogenic gene mutations
TGFBR1 (LDS1)15 (34)17.4±15.23.7–55.0
TGFBR2 (LDS2)14 (31.8)18.1±15.53.2–57.4
SMAD3 (LDS3)3 (6.8)19.7±15.93.8–35.5
TGFB2 (LDS4)7 (15.9)16.8±17.22.4–39.8
TGFB3 (LDS5)1 (2.3)37.5±n/an/a
SKI (SGS)4 (9)8.4±2.35.9–10.6
  • 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.