A case report of hepatopulmonary syndrome in hereditary hemorrhagic telangiectasia (HHT): Not all right-to-left shunting in HHT is due to pulmonary arteriovenous malformations.

RATIONALE: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by abnormal vessel growth that results in telangiectasias and arteriovenous malformations (AVMs) in the skin, mucosa, and viscera. Up to 30% of patients with HHT exhibit pulmonary AVMs (PAVMs), clinically manifesting as right-to-left shunting and hypoxemia. PATIENT CONCERNS: We report an unusual and novel case of a patient with HHT who lacked clinical sequelae of portal hypertension but presented to clinic with hypoxemia without dyspnea. DIAGNOSES: Diagnostic workup revealed noncardiac right-to-left shunting due to hepatopulmonary syndrome (HPS) from HHT-induced portal hypertension rather than PAVMs. The diagnosis was confirmed by the absence of PAVMs on chest computed tomography and evidence of elevated portal pressures as noted by the presence of small esophageal varices on upper endoscopy and histologic findings on liver biopsy. INTERVENTION: Due to the patient's mild symptoms, no further intervention was required. He was closely followed up in the outpatient setting for changes in symptoms and underwent annual screening for development of PAVMs. OUTCOMES: The patient continues to do well clinically. He has not experienced worsening hypoxemia or dyspnea and has not developed PAVMs. LESSONS: Given that management of hypoxemia in HPS drastically differs from that of hypoxemia due to PAVMs, this case demonstrates the importance of evaluating HHT patients for HPS if they exhibit impaired oxygenation and noncardiac right-to-leftshunting in the setting of hepatic arteriovenous shunting.

The Abernethy malformation with inferior caval vein hypoplasia: a tailored technique for transcatheter closure and an insight into embryological perspective.

Abernethy malformations manifest as hepatopulmonary syndrome, pulmonary vasculopathy, or encephalopathy. A novel intervention in a child with portosystemic shunt and inferior caval vein hypoplasia led to complete normalisation of hypoxia and relief of obstruction in the inferior caval vein. Embryological explanations of venous anomalies may indicate that inferior caval vein anomalies are frequent but under-recognised in patients with Abernethy malformation.

Hepatopulmonary syndrome with large pulmonary arteriovenous malformations: CT findings with emphasis on its association with a mosaic pattern of the lung parenchyma / Síndrome hepatopulmonar con malformaciones arteriovenosas pulmonares grandes: hallazgos en TC con énfasis en el patrón en mosaico del parénquima pulmonar

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