Imperial College London

Professor Claire Shovlin

Faculty of MedicineNational Heart & Lung Institute

Professor of Practice (Clinical and Molecular Medicine)



c.shovlin Website




534Block L Hammersmith HospitalHammersmith Campus






BibTex format

author = {Fatania, G and Gilson, C and Glover, A and Alsafi, A and Jackson, JE and Patel, MC and Shovlin, CL},
doi = {10.5582/irdr.2018.01103},
journal = {Intractable & rare diseases research},
pages = {236--244},
title = {Uptake and radiological findings of screening cerebral magnetic resonance scans in patients with hereditary haemorrhagic telangiectasia},
url = {},
volume = {7},
year = {2018}

RIS format (EndNote, RefMan)

AB - Hereditary haemorrhagic telangiectasia (HHT) results in arteriovenous malformations (AVMs), most commonly in the lungs, liver and brain. Discussion of cerebral vascular malformations is an important element of patient management. The current study objectives were to examine uptake and results of screening cerebral magnetic resonance (MR) scans, excluding symptomatic patients requiring neurological investigations. The remaining non-symptomatic individuals received formal pretest counselling that differed according to family history. For the 603 patients with no neurological symptoms of concern, screening scan uptake was higher after publication of the ARUBA trial. Patients with a family history of cerebral haemorrhage were 4 to 14-fold more likely to have a screening scan than patients with no such family history. For patients without neurological symptoms suggesting cerebral AVMs, none of the 59 screening scans performed at our institution demonstrated a cerebral AVM. Four scans (6.8%) demonstrated small aneurysms. The most common abnormality was cerebral infarction (20/59, 33.9%), predominantly identified in patients with pulmonary AVMs. Of 29 pulmonary AVM patients with no previous history of clinical stroke, 16 (55.2%) had between one and five silent infarcts. For HHT patients with pulmonary AVMs, the most frequently affected sites were the cerebellum (40%) and thalamus (14.3%), and the age-adjusted odds ratio for an infarct was 21.6 (95% confidence intervals 3.7, 126), p = 0.001. We concluded that for cerebral screening programmes in HHT, the findings support informed patient choice incorporating understanding that cerebral AVMs are rare in non-symptomatic HHT patients, but that screening scans commonly detect silent cerebral infarction due to pulmonary AVMs.
AU - Fatania,G
AU - Gilson,C
AU - Glover,A
AU - Alsafi,A
AU - Jackson,JE
AU - Patel,MC
AU - Shovlin,CL
DO - 10.5582/irdr.2018.01103
EP - 244
PY - 2018///
SN - 2186-361X
SP - 236
TI - Uptake and radiological findings of screening cerebral magnetic resonance scans in patients with hereditary haemorrhagic telangiectasia
T2 - Intractable & rare diseases research
UR -
UR -
UR -
VL - 7
ER -