Abstract: Poster Presentations |


Harvey H. Wong, MD*; Howard Leong-Poi, MD; Vikram Prabhudesai, MD; Marie E. Faughnan, MD
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University of Toronto, Toronto, ON, Canada


Chest. 2009;136(4_MeetingAbstracts):64S. doi:10.1378/chest.136.4_MeetingAbstracts.64S-a
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PURPOSE:  Pulmonary arteriovenous malformations (PAVMs) occur in 30–50% of hereditary hemorrhagic telangiectasia (HHT) patients. Some patients have no CT-detectable PAVMs but have intrapulmonary shunt (IPS) on contrast echocardiography (CE), possibly representing smaller PAVMs. We aimed to describe their clinical presentation and outcomes.

METHODS:  We identified patients from the Toronto HHT Database (1998–2008) with a definite HHT diagnosis according to the Curacao criteria. Patients with IPS on CE but negative CT scan for PAVMs were included. Retrospective chart and imaging review was performed.

RESULTS:  Of 73 patients with isolated IPS, 43/73(59%) were female; mean age was 44 years (range: 20–73). ALK1 mutation was detected in 28/73 (38%), endoglin mutation in 11/73 (15%), variant of unknown significance in 4/73 (5%) and no detected mutation in 6/73 (8%). At initial assessment, dyspnea was reported in 25/73 (34%), migraine in 17/73(23%), previous minor hemoptysis in 6/73 (8%) and previous stroke in 3/73 (4%), though strokes occurred at ages 59–65 years and with multiple non-HHT risk factors. In 3/73 (4%) patients, significant PAVMs were detected on immediate pulmonary angiography following initial negative CT (all pre-helical CT use). Mean follow-up was 49 months (range: 0–120). PAVMs were detected on follow-up CT in 2/73 (3%), of which one was confirmed retrospectively on initial CT. There was 1 death (age 69); unrelated to PAVMs. There were no hemorrhagic or neurologic PAVM complications. Forty-nine/73 (67%) underwent serial CE. IPS severity increased in 12/49 (24%), remained unchanged in 16/49 (33%), and decreased in 21/49 (43%) of which 11 normalized.

CONCLUSION:  Symptoms from isolated IPS are similar to PAVMs but occur at lower rates. Unlike patients with CT-detectable PAVMs, ALK-1 mutations might be more common than endoglin mutations. No PAVM-related complications were observed during follow-up, so risk of complications from isolated IPS is likely low. IPS severity remained unchanged or decreased over time in the majority of these patients.

CLINICAL IMPLICATIONS:  Short-term risk appears to be low in these patients, but long-term follow-up is important to detect previously undetected and new PAVMs.

DISCLOSURE:  Harvey Wong, Grant monies (from sources other than industry) Nelson Arthur Hyland Foundation (M.E.F.); No Product/Research Disclosure Information

Tuesday, November 3, 2009

12:45 PM - 2:00 PM




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