Multiple congenital visceral abnormalities as a rare cause of pulmonary arterial hypertension

Abstract

Background: Pulmonary arterial hypertension (PAH) is a rare, progressive disorder. PAH is caused by a wide spectrum of pathologies but the cause remains undetermined on many occasions and patients are classified in the idiopathic group.

Case presentation: Here we report a young woman with rare congenital visceral abnormalities presenting with severe pulmonary hypertension.

Conclusions: Pulmonary hypertension is a complex disorder. Search for uncommon conditions that lead to pulmonary hypertension is necessary to determine the best management options.

Keywords: Abernethy malformation; Congenital heart disease; Mayer–Rokitansky–Küster–Hauser syndrome; Pulmonary hypertension.

Fig. 1

Chest X-ray showing pulmonary artery dilation, right ventricular enlargement and scoliosis

Fig. 2

Echocardiogram showing right ventricular enlargement (A), septal flattening in systole and diastole in favor of right ventricular pressure overload (B), and high tricuspid regurgitation gradients (C). RV right ventricle, LV left ventricle, IVS inter-ventricular septum

Fig. 3

Contrast-enhanced axial CT scan in porto-venous phase demonstrating abnormal fistulous tract directly connecting splenic vein (SV) and superior mesenteric vein to inferior vena cava with absent main portal vein (A, B). Axial contrast CT image showing dilated pulmonary artery in favor of significant pulmonary hypertension (C)

Fig. 4

Abdominal angiography showing absent portal vein and splenic and superior mesenteric veins draining directly to inferior vena cava (arrow). IVC inferior vena cava, ReV renal vein