In conclusion, we suggest that LDS4 should be considered in patients of all ages with variable but mostly mild LDS-like phenotypes and/or with sparse signs of MFS and related connective tissue disorders with negative TGFBR1/2 and SMAD3 molecular tests, even though TAA and major cardiovascular events are absent, as it was for our proband. The gene discussed is TGFBR1; the disease is connective tissue disorder.