Fig. 1.

Japanese familial case of LDS with aortic diseases. (a) Pedigree of the Japanese family case of LDS with clinical features. The age is shown in the upper left corner and “d” indicates the age at death. The numbers in parentheses are the age at diagnosis for aortic dissections or annuloaortic ectasia (AAE). The plus and minus symbols in the upper left corner indicate the presence and absence of the variant, respectively. AAD indicates acute aortic dissection. Symbols: circle, female; square, male; open symbol, unaffected; filled symbol, aortic aneurysm or dissection affected; diagonal line, died; Z-score, the aortic root Z-score. (b) Histological analysis of the surgically dissected aortic tissues of the proband and non-familial TAA patient aged 70 years. TGF-β signaling was examined by immunohistochemical (IHC) staining against phosphorylated SMAD2. Scale bars: 500 µm in H&E and EVG; 100 µm in IHC. DAPI 4′, 6-diamidino-2-phenylindole for nuclear staining, EVG Elastica van Gieson staining, H&E hematoxylin and eosin staining, αSMA alpha smooth muscle actin for smooth muscle cell staining, TAA thoracic aortic aneurysm