Type II Abernethy malformation in an adult male patient\u2014a rare and reversible cause of pulmonary hypertension: a case report with review of literature

Abstract

BackgroundCo-occurrence of Type II Abernethy malformation (AM) with Type 1 pulmonary hypertension (PH) is extremely rare. In these patients, management of AM leads to reversal of PH.Case presentationWe report a case of 24-year-old male that presented with fever and dyspnea of insidious-onset. Initial X-ray chest revealed pulmonary edema, prominent pulmonary knuckle, and dilated right descending pulmonary artery. Two-dimensional echocardiography suggested raised pulmonary artery systolic pressure (145 mmHg) and pulmonary angiogram revealed findings suggestive of Type 1 PH. Treatment with Tab. Tadalafil-Bosentan (20/5 mg, thrice daily) was initiated, but no major relief was obtained. On day 10, dyspnea worsened. Routine ultrasound revealed splenomegaly. Further evaluation with Doppler of the portal vein was suggestive of portal hypertension, and arterial ammonia was found to be raised. Contrast-enhanced computed tomography of abdomen and pelvis demonstrated a single dilated (1.3 cm) and torturous venous shunt between right internal iliac vein and superior mesenteric vein. Thus, a definitive diagnosis of Type II AM was reached. The patient was stabilized and subjected to the shunt closure with ASD Cocoon stent graft and recovered well.ConclusionOur case demonstrates a rare but reversible cause of PH. Type II AM should be included in the differential diagnosis of a patient presenting with dyspnea and provisionally diagnosed as a case of PH.