Pulmonary Arteriovenous Fistula in a Patient with Rendu-Osler-Weber Syndrome

Marchesani, F; Cecarini, L.; Pela, Riccardo; Catalini, G.; Sabbatini, Armando; Fianchini, Aroldo; Sanguinetti, Claudio M.

doi:10.1159/000196706

Cited by 8 publications

(5 citation statements)

References 3 publications

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“…The risk of a brain abscess (BA) is increased among HHT patients having PAVMs [4] which are direct connections between an artery and a vein in the pulmonary circulation [5,6,7]. PAVMs diminish the lung filtering capability, thus leading to brain ischemia due to primarily septic emboli or to sterile emboli and consequent bacterial seeding of the infarcted area [8].…”

Section: Introductionmentioning

confidence: 99%

Pulmonary Arteriovenous Malformations, Hereditary Hemorrhagic Telangiectasia, and Brain Abscess

Gargiulo

Guastamacchia²,

Resta³

et al. 2006

Respiration

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Hereditary hemorrhagic telangiectasia (HHT) is a systemic angiodysplasia inherited as an autosomal dominant disease. Patients with HHT and pulmonary arteriovenous malformations (PAVMs) are at increased risk for brain abscess (BA), a potentially preventable condition as effective treatment for PAVMs is available. In a center dedicated to HHT, a history of BA was found in 6 out of 128 patients with a definite diagnosis: herewith, their histories are reported focusing on mistakes in the diagnosis and management of the disease. Patients with PAVMs and BA had a higher mean hemoglobin concentration (15.1 g/dl vs. 12.2 g/dl, p < 0.006 by Student’s t test) compared to patients with PAVMs alone. Other clinical features (genetics, bacteriology, types of PAVMs, treatments, outcomes) are also discussed. Prompt diagnosis and screening for visceral involvement is pivotal for HHT patients and their relatives.

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Section: Introductionmentioning

confidence: 99%

Pulmonary Arteriovenous Malformations, Hereditary Hemorrhagic Telangiectasia, and Brain Abscess

Gargiulo

Guastamacchia²,

Resta³

et al. 2006

Respiration

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“…Only 10% of the cases of PAVMs are identified in infancy or childhood, and in approximately 70% of cases, PAVMs are associated with HHT [1, 3]. Our patient showed no epistaxis and no telangiectases at any of the typical sites (lips, oral cavities, fingers, nose); thus a diagnosis of HHT appeared inappropriate [4].…”

Section: Discussionmentioning

confidence: 86%

Diffuse Pulmonary Arteriovenous Malformations in a Teenager with Corrected Total Anomalous Pulmonary Venous Drainage

Pfleger

Gamillscheg²,

Popper³

et al. 2005

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This case report describes a 13-year-old boy with diffuse microvascular pulmonary arteriovenous malformations, in whom total anomalous pulmonary venous drainage had been corrected surgically in the newborn period. Contrast transesophageal echocardiography, cardiac catheterization and a lung perfusion scan suggested, and lung biopsy confirmed the diagnosis in our patient. Treatment with nifedipin was commenced. Conclusion: This case illustrates the diagnostic difficulties with this rare malformation.

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“…Pulmonary lobectomy or pneumonectomy was performed in emergency cases or where multiple lesions were present [12,18,45]. However, transcatheter embolotherapy can prevent many of the debilitating and lifethreatening complications; embolization is a reliable and efficient procedure for occluding pulmonary AVMs and is currently recommended for all pulmonary AVMs with a feeding artery ≥3 mm [46].…”

Section: Discussionmentioning

confidence: 99%

Pulmonary arteriovenous malformation causing sudden death due to spontaneous hemothorax

et al. 2009

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A sudden death due to hemothorax caused by spontaneous rupture of a congenital pulmonary arteriovenous malformation (AVM) is reported. A 44-year-old woman died unexpectedly with chest pain and dyspnea. The post-mortem examination revealed a massive right-sided hemothorax arising from a subpleural AVM of the upper lobe. There were multiple telangiectases in the tongue and the tonsils, as typically associated with Osler-Weber-Rendu disease (hereditary hemorrhagic telangiectasia, HHT). The post-mortem molecular genetic analysis proved the presence of a disease-causing mutation in the endoglin gene constituting a predisposition for pulmonary AVMs. According to the literature, almost half of the AVMs in the lung are seen in HHT patients. Based on the presented case and the relevant literature, the article addresses the forensic aspects of fatal hemothorax and the importance of detecting the source of bleeding.

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Pulmonary Arteriovenous Fistula in a Patient with Rendu-Osler-Weber Syndrome

Cited by 8 publications

References 3 publications

Pulmonary Arteriovenous Malformations, Hereditary Hemorrhagic Telangiectasia, and Brain Abscess

Pulmonary Arteriovenous Malformations, Hereditary Hemorrhagic Telangiectasia, and Brain Abscess

Diffuse Pulmonary Arteriovenous Malformations in a Teenager with Corrected Total Anomalous Pulmonary Venous Drainage

Pulmonary arteriovenous malformation causing sudden death due to spontaneous hemothorax

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