A large pulmonary arteriovenous malformation in an adolescent girl - timely diagnosis and treatment: a case report.

Abstract

Pulmonary arteriovenous malformation (PAVM) is a rare, pathological, intrapulmonary, right-to-left shunt resulting from abnormal communication between the pulmonary artery and pulmonary vein. It can remain asymptomatic and/or suddenly manifest with life-threatening complications. A 13-year-old girl presented with giddiness, falling over and loss of consciousness. She was the fourth child of non-consanguineous parents, and two of her older siblings had died: a girl at 2 years of age owing to suspected pneumonia, and a boy at 8 years of age owing to falling over and convulsions. She had dyspnoea, central cyanosis, clubbing, severe hypoxaemia, polycythaemia and iron deficiency. Chest radiograph demonstrated well defined homogeneous opacity in the right hilar region. The thoracic CT angiogram revealed a large PAVM in the superior segment of the right lower lung fields. Percutaneous cardiac catheterisation and coil embolisation of the PAVM were successfully undertaken. Her oxygen saturation improved to 95-97% in room air. She remained asymptomatic during 2 months of follow-up and then by telephone for 1 year post-procedure. However, her parents have not since attended the hospital for repeat examination and scans. This case highlights the timely, successful treatment of a large PAVM in an adolescent girl and emphasises the need for awareness in paediatricians and other healthcare workers about PAVMs, which, although rare, are potentially life-threatening, especially in adolescents in whom a comorbidity such as iron deficiency could increase the risk of PAVM complications.