We reported 10 patients with features of Loeys-Dietz syndrome (LDS), which would be the largest group of Loeys-Dietz syndrome ever reported in China till now.

10 likely pathogenic mutations or rare variants of uncertain significance were found, which expanded the mutation spectrum of LDS.

In our cohort, except for the 2 LDS kids, the other 8 individuals seemed to have an older morbidity and operation age than ever reported, suggesting LDS might have a wide phenotypic spectrum.