Eur Respir Mon 2011; 54: 218–245. DOI: 10.1183/1025448x.10008410 Pulmonary arteriovenous malformations and other pulmonary aspects of hereditary haemorrhagic telangiectasia Claire L Shovlin, 1 2 Peter Wilmshurst 3 4 and James E. Jackson 5 1NHLI Cardiovascular Sciences, Imperial College, London, UK. 2Respiratory Medicine, 5Imaging, Hammersmith Hospital, Imperial College Healthcare NHS Trust, London UK. 3 Department of Cardiology, Royal Shrewsbury Hospital, UK; 4 University of Keele, UK Corresponding author: Dr Claire L. Shovlin PhD FRCP, HHTIC London, Respiratory Medicine, Hammersmith Hospital, Du Cane Rd, London, W12 0NN, UK. Phone (44) 208 383 4831; Fax (44) 208 383 1640;
[email protected] CLS and JEJ acknowledge support from the NIHR Biomedical Research Centre Funding Scheme. The authors have no conflicts of interest to declare KEY WORDS: Contrast echocardiography, diving, hypoxaemia, pulmonary hypertension, stroke. 1 SUMMARY: Pulmonary arteriovenous malformations (PAVMs) are vascular structures that provide a direct capillary-free communication between the pulmonary and systemic circulations. The majority of patients have no PAVM-related symptoms, but are at risk of major complications that can be prevented by appropriate interventions. More than 90% of PAVMs occur as part of hereditary haemorrhagic telangiectasia (HHT), the genetic condition most commonly recognised by nosebleeds, anaemia due to chronic haemorrhage, and/or the presence of arteriovenous malformations in pulmonary, hepatic or cerebral circulations. Patients with HHT are also at higher risk of pulmonary hypertension and pulmonary embolic disease, management of which can be compounded by other aspects of their HHT. This chapter primarily addresses PAVMs and pulmonary HHT in the clinical setting, in order to improve patient care.