Pulmonary arteriovenous malformations: a radiological and clinical investigation of 136 patients with long-term follow-up

Abstract

To assess the clinical outcome of patients with and without hereditary haemorrhagic telangiectasia (HHT) after embolisation of pulmonary arteriovenous malformations (PAVM) from a single national centre. The present register-based observational study including all patients with PAVM treated with embolisation at a reference centre for HHT and PAVM was undertaken over a 20-year period. Demographic data, HHT genotyping, clinical presentation, and outcome were registered. Patients with HHT were compared to the patients without HHT. Clinical examination, contrast-enhanced echocardiography, and computed tomography (CT) were used to assess the clinical outcome at follow-up. One hundred and thirty-six patients with 339 PAVM underwent embolisation during the study period: 22 did not have HHT; 62% had HHT1, 10% had HHT2, 4% had JP-HHT, 8% had clinical HHT without identified genetic mutations. Solitary PAVM were more common among patients without HHT than with HHT. Mean follow-up after the first embolisation was 58 months. Mean age at first embolisation was 46.5 years, and at last follow-up 51.8 years. The clinical success without shunt at follow-up was 87%. The 30-day mortality related to the embolisation was 0%. Twenty patients died during follow-up (mean age 69 years). Most patients could be treated during one session, but many will need a long follow-up with repeated clinical examinations and embolisation. The majority of patients referred for embolisation of PAVM had HHT. Multiple PAVM is associated with HHT. Patients with PAVM should be screened for HHT and patients with HHT for PAVM. Embolisation is a safe procedure with high clinical success.