Pulmonary hypertension often presents with nonspecific symptoms including exertional dyspnea, progressive decline in exercise capacity, angina or syncope. Patients are frequently detected incidentally during a transthoracic echocardiography performed for other indications. Echocardiography findings favoring remarkable PH warrant detailed clinical evaluation to establish the specific etiology. Comprehensive laboratory-tests, transesophageal echocardiography, pulmonary function tests, high-resolution CT, abdominal sonography and CT pulmonary angiography are undertaken based on the presumed underlying cause of PH. Cardiac magnetic resonance (CMR) imaging helps delineate cardiac morphology and function and non-invasively assess the hemodynamics. CMR also provides valuable prognostic information. Right heart catheterization is necessary to confirm the diagnosis, ascertain PH severity and carry out vasoreactivity testing when clinically indicated [3,4,5].
Pulmonary hypertension occurs in about 1–5% of patients with portal hypertension. Abernethy malformation or congenital extra hepatic portosystemic shunt is a rare abnormality of the portal venous system with shunting of portal blood into the systemic venous system. Abernethy malformation has two subtypes. In type I that is more frequent in females, the portal vein and intrahepatic portal circulation are entirely absent. In type II the portal vein is hypoplastic. In the absence of portal venous system the intestinal and splenic veins drain directly to the inferior vena cava, left renal vein or the left hepatic vein creating a porto-systemic shunt and varying degrees of portal hypertension. As the normal enterohepatic circulation is diminished, the toxins and vasoactive material from the intestine are bypassed to the systemic circulation without being metabolized in the liver leading to liver damage, hepatopulmonary syndrome, pulmonary hypertension and arterio-venous fistulas. Pulmonary arterial hypertension develops as a result of chronic vasoconstrictive effect of toxic vasoactive substances on the pulmonary vascular bed. There is also an increased risk of hepatic neoplasms. Type II could be treated by surgery or interventional methods of shunt elimination [6,7,8]. Our patient had type I malformation in which the treatment option is limited to liver transplantation; however, presence of severe pulmonary hypertension serves as an obstacle to transplantation unless concurrent lung transplantation is performed.
Skeletal and visceral anomalies including hepatobilliary, splenic and genitourinary anomalies have been reported in Abernethy malformation [9]. Our patient had concomitant MRKH syndrome that is characterized by the failure of normal development of the uterus and the vagina. The ovarian function, external genitalia and development of secondary sexual characteristics during puberty are normal. Affected women do not have menstrual cycles (primary amenorrhea). MRKH syndrome could be isolated (Type I) or be associated with other defects including renal, skeletal, cardiac or hearing abnormalities (Type II). This syndrome has significant psychological effects. Management options include surgical or nonsurgical creation of a neovagnia or newly introduced methods of uterine transplantation [10]. Although associated cardiac defects are reported in MRKH type II patients but to the best of our knowledge co-occurrence with porto-systemic shunt and pulmonary hypertension has not been reported previously. Presence of multiple anomalies would further complicate treatment options in these patients.