In April 2017, she was referred to our hospital and was diagnosed with Marfan syndrome (MFS) based on the presence of ectopia lentis and TAAD and a previously reported FBN1 pathogenic variant (c.1709G>C; p.Cys570Ser); however, she died suddenly due to an unknown cause a few months later. The gene discussed is FBN1; the disease is Marfan syndrome.