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