Fig. 1
From: A highly penetrant ACTA2 mutation of thoracic aortic disease
Family pedigree. The arrow indicates the proband (II-2). Plus signs (+) and minus signs (−) indicate presence and absence, respectively, of R118Q variant of the ACTA2 gene. Slashed line indicates death at the age indicated. Proband son (III-1) has undergone genetic testing but has declined CT surveillance for aneurysmal disease. Proband brother (II-4) underwent emergent repair for dissection at 60y