Background: Pulmonary arteriovenous malformations (PAVMs) lead to stroke, brain abscess, and hemorrhage in hereditary hemorrhagic telangiectasia (HHT). The current screening approach for PAVMs in HHT patients with chest radiograph (CXR) and oxygen shunt study has not been validated and is thought to be insensitive. We hypothesized that agitated saline contrast echocardiography (ECHO) would be a useful screening test for PAVMs.
Methods and results: A total of 106 sequential HHT patients underwent screening for PAVMs with ECHO in a prospective study. If the test was positive, or if the CXR or shunt study suggested PAVMs, pulmonary angiography was performed. A positive ECHO was defined as appearance of bubbles in the left atrium after injection of agitated saline solution. A positive shunt study was defined as a partial pressure of oxygen in arterial blood <500 mm Hg while breathing 100% oxygen. The mean age was 41 years (range 15-80 years); 66% were female. Forty-four patients had positive ECHO. Forty-one of the 44 patients underwent angiography. Three patients declined further testing. Thirty-three of the 41 patients who underwent angiography were diagnosed with PAVMs. Of the 62 patients with a negative ECHO, 18 underwent angiography because of either a shunt study or CXR that was suggestive of PAVMs. Of these 18 patients, 2 had PAVMs. In the total population of 106 patients, 35 (33%) had PAVMs. ECHO was the only positive screening test in 11 of 35 (31%) patients. The diagnosis of PAVMs in these 11 patients would have otherwise been missed.
Conclusions: ECHO is a useful screening tool for PAVMs in HHT.