Figure 1 –

Clinical, radiographic, and pathologic findings of patients with telomere syndrome with noncirrhotic portal hypertension. A, Lymphocyte telomere length by flow cytometry and fluorescence in situ hybridization in index cases (n = 6) or their first-degree relatives when the index case was identified postmortem (n = 3). The telomere length is shown relative to age-adjusted percentiles of 192 healthy control subjects. B, C, Images of digital clubbing typically seen. (The patients provided written consent for the use of these photographs.) D, High-resolution chest CT image showing minimal subpleural fibrotic changes in a patient at the time of liver transplantation. E, Postcontrast chest CT scan showing mildly dilated pulmonary vessels (arrows) with high-caliber pulmonary vasculature seen into the periphery of the lung, especially in the lower lobes. F, Transthoracic contrast-enhanced echocardiography image shows microbubbles injected into a peripheral vein accumulating in the RA and RV. Between cardiac cycles 3 and 6, microbubbles appear in the LA and LV, consistent with an intrapulmonary shunt. G, H, CT scan images of the liver in the portal venous phase showing caudate lobe hypertrophy, splenomegaly, and dilated main and left portal veins (arrows). I, Magnetic resonance arteriogram of the liver obtained in the venous phase revealed an enlarged portal vein (single arrow) and splenomegaly. In addition, there is evidence of arteriovascular malformations along the liver edge (three short arrows) and a prominent splenic vein (three long arrows). D-I, Paired images (D, G; E, H; F, I) from three patients. J, Hematoxylin-and-eosin-stained micrograph of a needle biopsy specimen demonstrates regions of hepatocellular hyperplasia (*) with compression of intervening hepatocytes at the edges ({) (original magnification × 10). K, The compressed, atrophic hepatocytes are most pronounced on the reticulin stain ({) (original magnification × 4). L, Prussian blue stain in the same region shows periportal iron deposition in the hepatocytes (original magnification × 10). LA = left atrium; LV = left ventricle; RA = right atrium; RV = right ventricle.