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

Abstract

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.

BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia

“…Nevertheless, inheritance of multiple pulmonary AVMs aside from an etiology of HHT is rare and is typically associated with a clinically recognizable syndrome. Our patient did not demonstrate features of other congenital entities associated with pulmonary AVMs such as total or partial anomalous pulmonary venous drainage [Pfleger et al, 2007], anomalous hepatic venous flow [Imoto et al, 2006], congenital hepatic fibrosis [Vettukattil, 2002], or Adams–Oliver syndrome [Maniscalco et al, 2005]. HHT is not a manifestation of PAH or its treatment, nor did our patient have clinical or radiographic evidence of cardiac cirrhosis or other causes of portal hypertension to suggest hepatopulmonary syndrome, or other acquired conditions rarely associated with pulmonary AVMs [Iqbal et al, 2000; Vettukattil, 2002].…”

An Anomalous Unilateral Single Pulmonary Vein Associated with a Bone Morphogenetic Protein Receptor II Gene Mutation

“…Hence, the patient should be monitored for possible paradoxical emboli caused by a small, undetectable right-to-left shunt. A histological examination might be helpful for assessing the presence and severity of diffuse microvascular AVMs (22), but further invasive examinations did not seem to be warranted for this patient.…”