PURPOSE: Porto-pulmonary hypertension (PPH) is an infrequent condition of pulmonary arterial hypertension (PAH). PPH is mostly described with liver cirrhosis and porto-systemic collaterals; cases of congenital shunts are extremely rarely published. Congenital anomalies of the portal vein (CAPV) - agenesis or hypoplasia - result from aberrant venous development in early embryonic life and enable mesenteric and splenic venous drainage to by-pass liver and enter directly into systemic venous circulation. Shunt causes not only volume overload but more importantly, allows vasoconstrictive-vasoproliferative agents to reach pulmonary circulation and potentiate PAH development.
METHODS: Although this condition is considered rare, in the last 4 years we detected 3 cases of severe PPH due to CAPV. Multisystemic approach was necessary to confirm the diagnosis.
RESULTS: Two young adults (28-year-old female and 30-year-old male) and a 22-months-old girl presented with long-term fatigue and dyspnoea. Right heart catheterization confirmed severe PAH in all, with mPAP 65, 85, 47 mmHg and PVR 7 WU, 12 WU, 10.4 WU/m2 respectively. Fist-line conclusion was idiopathic PAH. However, due to intermittent abdominal symptoms and mildly elevated hepatic enzymes abdominal ultrasonography and computerized tomography were performed and CAPV with porto-systemic shunting to inferior vena cava was established; diagnosis was specified as PPH. Because of reduced exercise capacity (WHO II-III) the specific therapy of PAH was initiated (ambrisentan, sildenafil, bosentan). Due to the therapy in 2 adult patients their functional status significantly improved, the child is treated to short to evaluate.
CONCLUSIONS: PPH is a well-known complication of portal hypertension in chronic liver diseases. Rather than portal hypertension per se porto-systemic shunting seems to be the crucial pathophysiological cause of PAH even without liver disease and/or portal hypertension (like in our patients). CAPV is rarely described as a cause of PPH, on the other hand it may be more frequent after all.
CLINICAL IMPLICATIONS: Crucial in the management of PPH is the complex diagnosis and care in a specialized expert center. Despite lack of treatment experience it seems that specific targeted therapy may positively influence the clinical course even in this PAH subgroup.
DISCLOSURE: The following authors have nothing to disclose: Iveta Simkova, Monika Kaldararova, Marcela Tavacova, Marian Hrebik
No Product/Research Disclosure Information