Figure 1. Family pedigree. The
proband (III: 2, mutation carrier) presented with an ascending
aortic aneurysm and underwent a ROSS procedure. Both the
proband’s mother (II: 1) and uncle (II: 2) carry a TGFBR2
mutation and have cardiovascular and skeletal system
irregularities. The proband’s grandfather (I: 1) died suddenly
at 43 years of age from an ascending aortic dissection; however,
no genetic test was performed. No mutation was found in III: 1
and III: 3 who have normal phenotypes.