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

BMC Hematology

Lalindra Goonarathne¹  Godwin R Constantine²  Chaturaka Rodrigo²  Nuwan Ranawaka³  Lasitha Samarakoon³ 

[1] Department of Pathology, Faculty of medicine, University of Colombo, Colombo, Sri Lanka;Department of Clinical Medicine, University of Colombo, Colombo, Sri Lanka;University Medical Unit, University of Colombo, Colombo, Sri Lanka

关键词: Right heart catheterisation;    Contrast echocardiography;    Transthoracic echocardiogram;    Pulmonary arterio venous fistulae;    Associations;    Fanconi anaemia;   

Others  :  865406
DOI  :  10.1186/1471-2326-12-1

 received in 2012-01-10, accepted in 2012-03-17,  发布年份 2012

【 摘 要 】

Background

We 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 Presentation

A 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.

Conclusion

To 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.

【 授权许可】

   
2012 Samarakoon et al; licensee BioMed Central Ltd.

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