Fig. 1

a: Sanger sequencing (electrophoregram)showing the homozygous nucleotide change C > T at c.430 in PUS1 gene. The variation was confirmed by sequencing with both forward and reverse primers. b: Coronal CT image (lung window) showing dilated pulmonary arteries and mosaic attenuation with tiny cysts in the periphery. c - T1 myocardial map sagittal oblique image depicting the decrease T1 values of the liver parenchyma (408ms; reference mean normal value for same age and gender:820 ms) suggestive of iron deposition within the liver parenchyma (yellow asterisk). d: shows aortic and pulmonary artery pressure tracings during cardiac catheterisation. Pulmonary artery pressure is 83/39(54) mm Hg on 100% oxygen by mask. Aortic pressure is 126/74(96) mm Hg