Hepatopulmonary Syndrome, Severe Cyanosis and Marfanoid Habitus.

We report the case of a 17-year-old male with Marfanoid habitus who presented with deep cyanosis, haematemesis, dyspnoea and platypnoea. He had oesophageal varices, indicating portal hypertension, with mildly deranged liver function. His arterial blood gas (ABG) revealed hypoxia and orthodeoxia. Contrast-enhanced echocardiography with agitated saline and a 99m Technetium macro-aggregated albumin perfusion lung scan confirmed intrapulmonary shunting. Pulmonary angiogram showed multiple, small diffuse pulmonary arteriovenous fistulae scattered all over the lungs and predominantly in the bases of the lungs. Based on these results and the clinical background a diagnosis of hepatopulmonary syndrome with Marfanoid habitus was made. Patient was treated conservatively as he was not prepared for liver transplantation.