Notably, although the clinical manifestations of patients (I:1 and II:1) with the ACTA2 R117I mutation in family 1 are variable, a TAAD was the first and only symptom that has been presented by this proband, whereas another mutation carrier (I:1) had a stroke that occurred in middle-age and the proceeded to have a TAAD. Here, ACTA2 is linked to Stroke.