Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment

CL Shovlin - Blood reviews, 2010 - Elsevier
Hereditary haemorrhagic telangiectasia, inherited as an autosomal dominant trait, affects
approximately 1 in 5000 people. The abnormal vascular structures in HHT result from …

Hereditary haemorrhagic telangiectasia: a clinical and scientific review

FS Govani, CL Shovlin - European journal of human genetics, 2009 - nature.com
The autosomal-dominant trait hereditary haemorrhagic telangiectasia (HHT) affects 1 in 5–
8000 people. Genes mutated in HHT (most commonly for endoglin or activin receptor-like …

Migraine Intervention With STARFlex Technology (MIST) trial: a prospective, multicenter, double-blind, sham-controlled trial to evaluate the effectiveness of patent …

A Dowson, MJ Mullen, R Peatfield, K Muir, AA Khan… - Circulation, 2008 - ahajournals.org
Background—Patent foramen ovale (PFO) is prevalent in patients with migraine with aura.
Observational studies show that PFO closure resulted in migraine cessation or improvement …

[HTML][HTML] Approach to pulmonary arteriovenous malformations: a comprehensive update

S Majumdar, JP McWilliams - Journal of clinical medicine, 2020 - mdpi.com
Pulmonary arteriovenous malformations (PAVMs) are abnormal direct vascular
communications between pulmonary arteries and veins which create high-flow right-to-left …

PAVM embolization: an update

SO Trerotola, RE Pyeritz - American Journal of Roentgenology, 2010 - ajronline.org
OBJECTIVE. Pulmonary arteriovenous malformations (PAVMs) are most often associated
with hereditary hemorrhagic telangiectasia. Untreated, they represent a serious threat due to …

Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease)

V Cottin, S Dupuis-Girod, G Lesca, JF Cordier - Respiration, 2007 - karger.com
Hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease is a genetic
disorder with autosomal dominance and variable penetrance, characterized by epistaxis …

[HTML][HTML] Hereditary hemorrhagic telangiectasia: from molecular biology to patient care

S Dupuis‐Girod, S Bailly, H Plauchu - Journal of Thrombosis and …, 2010 - Elsevier
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder
characterized by severe and recurrent nosebleeds, mucocutaneous telangiectases, and, in …

Ischaemic strokes in patients with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia: associations with iron deficiency and platelets

CL Shovlin, B Chamali, V Santhirapala, JA Livesey… - PLoS …, 2014 - journals.plos.org
Background Pulmonary first pass filtration of particles marginally exceeding∼ 7 µm (the size
of a red blood cell) is used routinely in diagnostics, and allows cellular aggregates forming …

Clinical implications of pulmonary shunting on saline contrast echocardiography

S Velthuis, E Buscarini, JR Gossage, RJ Snijder… - Journal of the American …, 2015 - Elsevier
Pulmonary right-to-left shunting can be encountered using transthoracic contrast
echocardiography (TTCE) with agitated saline. Diseases associated with pulmonary …

Real prevalence of pulmonary right-to-left shunt according to genotype in patients with hereditary hemorrhagic telangiectasia: a transthoracic contrast …

MWF van Gent, MC Post, RJ Snijder, CJJ Westermann… - Chest, 2010 - Elsevier
Background Transthoracic contrast echocardiography (TTCE) can detect pulmonary right-to-
left shunting (RLS) and is used to screen for pulmonary arteriovenous malformations …