Multiple Pulmonary Arteriovenous Malformations in Association with Fanconi's Syndrome

Taxman, Robert M.; Halloran, Mark J.; Parker, Brent M.

doi:10.1378/chest.64.1.118

Cited by 15 publications

(4 citation statements)

References 9 publications

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“…A number of other conditions are more rarely associated with acquired PAVMs, such as hepatic cirrhosis [6], schistosomiasis [7], mitral stenosis [8], trauma [8], actinomycosis [8], Fanconi's syndrome [9], and metastatic thyroid carcinoma [10] and other cancers. The remainder of PAVMs are presumed to be idiopathic in nature.…”

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confidence: 99%

Idiopathic pulmonary arteriovenous malformations: clinical and imaging characteristics

Wong

Chan

Klatt

et al. 2010

European Respiratory Journal

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Pulmonary arteriovenous malformations (PAVMs) can cause stroke, brain abscess or life-threatening haemorrhage. Most PAVMs are associated with hereditary haemorrhagic telangiectasia (HHT). The aim of the present study was to describe the clinical presentation and treatment outcomes of those with idiopathic PAVMs, which has not previously been described in the literature.Patients with idiopathic PAVMs were identified at our HHT centre. Retrospective review of charts and imaging were performed. 20 patients were identified with idiopathic PAVMs. The most common symptoms reported were dyspnoea and migraines (50 and 30% of patients, respectively). Previous complications of PAVMs included haemoptysis (20%), stroke (20%) and brain abscess (5%). A total of 28 focal PAVMs were identified. Most patients (80%) had a solitary PAVM. 13 out of 28 PAVMs (46%) were located in the lower lobes. Most were simple and fistulous rather than complex and plexiform. Transcatheter embolotherapy was performed in 17 patients and was successful in improving oxygenation in all cases.The clinical manifestations and complications of idiopathic PAVMs are similar to those associated with HHT. Idiopathic PAVMs are anatomically similar to HHT-related PAVMs except for a greater number of solitary PAVMs and a lack of lower lobe predominance. Transcatheter embolotherapy is a safe and effective method for treating idiopathic PAVMs.

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confidence: 99%

Idiopathic pulmonary arteriovenous malformations: clinical and imaging characteristics

Wong

Chan

Klatt

et al. 2010

European Respiratory Journal

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“…Steens et al reported a case of pulmonary alveolar proteinosis with FA [23]. A single case of multiple pulmonary AV fistulae associated with Fanconi syndrome has been reported as far back as 1973 [24]. Despite an extensive literature survey we did not come across any further reported cases of FA associated with multiple pulmonary arterio venous fistulae making our case the second ever reported in medical literature during the span of nearly four decades.…”

Section: Discussionmentioning

confidence: 82%

Fanconi anaemia with bilateral diffuse pulmonary arterio venous fistulae: a case report

et al. 2012

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BackgroundWe report a patient with cytogenetically confirmed Fanconi anaemia with associated diffuse bilateral pulmonary arterio-venous fistulae. This is only the second reported case of diffuse pulmonary arterio-venous fistulae with Fanconi anaemia.Case PresentationA 16 year old Sri Lankan boy, with a cytogenetically confirmed Fanconi anaemia was admitted to University Medical Unit, National Hospital of Sri Lanka for further assessment and treatment. Both central and peripheral cyanosis plus clubbing were noted on examination. The peripheral saturation was persistently low on room air and did not improve with supplementary Oxygen. Contrast echocardiography failed to demonstrate an intra cardiac shunt but showed early crossover of contrast, suggesting the possibility of pulmonary arterio-venous fistulae. Computed tomography pulmonary angiogram was inconclusive. Subsequent right heart catheterisation revealed bilateral diffuse arterio-venous fistulae not amenable for device closure or surgical intervention.ConclusionTo our knowledge, this is the second reported patient with diffuse pulmonary arterio-venous fistulae associated with Fanconi anaemia. We report this case to create awareness among clinicians regarding this elusive association. We recommend screening patients with Fanconi anaemia using contrast echocardiography at the time of assessment with transthoracic echocardiogram. Though universal screening may be impossible given the cost constraints, such screening should at least be performed in patients with clinical evidence of desaturation or when a therapeutic option such as haematopoietic stem cell transplantation is considered. Treatment of pulmonary arteriovenous fistulae would improve patient outcome as desaturation by shunting worsens the anaemic symptoms by reducing the oxygen carrying capacity of blood.

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“…Abnormal communications between pulmonary arteries and veins may also be found in a variety of acquired conditions, and in these cases the correct nomenclature is PAVF. These acquired conditions include hepatic cirrhosis, and less commonly schistosomiasis, mitral stenosis, trauma, actinomycosis, Fanconi's syndrome and metastatic thyroid carcinoma [5][6][7][8][9].…”

Section: Case Reportmentioning

confidence: 99%

Pulmonary arteriovenous fistula within a pulmonary cyst – evaluation with CT pulmonary angiography

Ghersin

Hildoer

Fishman³

2010

BJR

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Pulmonary arteriovenous malformations (PAVMs) are abnormal direct communications between pulmonary arteries and pulmonary veins. These abnormal communications result in an anatomical right-to-left shunt that reduces the arterial oxygen saturation and may cause hypoxaemia and dyspnoea. Although PAVMs frequently remain undiagnosed, they are associated with severe morbidity in the form of ischaemic strokes and brain abscesses. We report a case of incidental CT angiography depiction of a PAVM within a pulmonary cyst. To the best of our knowledge, no such case has been described previously. On the basis of its appearance and lack of typical clinical features of hereditary haemorrhagic telangiectasia (HHT), we suggest that this PAVM actually represents an acquired fistula from a previously unrecognised focal pulmonary insult, such as trauma or infection, that simultaneously evolved into a pulmonary arteriovenous fistula (PAVF) within a traumatic pulmonary cyst or pneumatocele.

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Multiple Pulmonary Arteriovenous Malformations in Association with Fanconi's Syndrome

Cited by 15 publications

References 9 publications

Idiopathic pulmonary arteriovenous malformations: clinical and imaging characteristics

Idiopathic pulmonary arteriovenous malformations: clinical and imaging characteristics

Fanconi anaemia with bilateral diffuse pulmonary arterio venous fistulae: a case report

Pulmonary arteriovenous fistula within a pulmonary cyst – evaluation with CT pulmonary angiography

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