ABSTRACT
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.
Subject(s)
Arteriovenous Malformations/diagnostic imaging , Contrast Media/administration & dosage , Echocardiography/methods , Heart Atria/diagnostic imaging , Lung/blood supply , Pulmonary Artery/abnormalities , Pulmonary Veins/abnormalities , Sodium Chloride , Adolescent , Adult , Aged , Aged, 80 and over , Angiography , Arteriovenous Malformations/complications , Arteriovenous Malformations/therapy , Diagnosis, Differential , Female , Humans , Injections, Intravenous , Lung/diagnostic imaging , Male , Middle Aged , Observer Variation , Prospective Studies , Pulmonary Artery/diagnostic imaging , Pulmonary Veins/diagnostic imaging , Sodium Chloride/administration & dosage , Telangiectasia, Hereditary Hemorrhagic/complications , Telangiectasia, Hereditary Hemorrhagic/diagnostic imagingABSTRACT
BACKGROUND AND PURPOSE: Cerebral arteriovenous malformations (AVMs) are occasionally associated with hereditary hemorrhagic telangiectasia (HHT), which is characterized by the presence of multiple mucocutaneous telangiectasia, epistaxis, and familial inheritance. We analyzed the angiographic and clinical characteristics of patients with cerebral AVMs related to HHT. METHODS: Among 638 patients with cerebral AVMs, we identified 14 patients with HHT. The AVMs were classified as those with nidi of 1 cm or less (micro AVMs), those with nidi between 1 and 3 cm (small AVMs), and those of the fistulous type (arteriovenous fistulas [AVFs]). RESULTS: A total of 28 AVMs were found; seven of 14 patients had multiple AVMs. The 28 AVMs were categorized as 12 micro AVMs, eight small AVMs, and eight AVFs. All except one micro AVM were asymptomatic, whereas all small AVMs were symptomatic. Three of eight AVFs were asymptomatic. All 28 AVMs were located on the cortex. All micro AVMs and AVFs had single feeders and single draining veins, whereas the small AVMs had multiple feeders in all lesions and single draining veins in six of eight lesions. CONCLUSION: Multiple, cortical, micro AVMs or AVFs harboring single feeding arteries and single draining veins should raise clinical suspicion of HHT-related AVMs.
Subject(s)
Cerebral Angiography , Intracranial Arteriovenous Malformations/diagnostic imaging , Intracranial Arteriovenous Malformations/etiology , Telangiectasia, Hereditary Hemorrhagic/complications , Telangiectasia, Hereditary Hemorrhagic/diagnostic imaging , Adolescent , Adult , Arteriovenous Fistula/diagnostic imaging , Arteriovenous Fistula/etiology , Child , Female , Humans , Male , Middle Aged , Retrospective Studies , Tomography, X-Ray ComputedABSTRACT
We report two cases, in first cousins, of spinal arteriovenous malformations (AVMs) of the perimedullary fistula type and hereditary hemorrhagic telangiectasia (HHT). Spinal AVMs are a rare clinical presentation of HHT, but can be the first manifestation in a child with this disorder. The importance of considering a coexisting disorder of vascular dysplasia, such as HHT, when a child presents with a spinal AVM is discussed.
