Imaging of Hereditary Hemorrhagic Telangiectasia

Journal Article · Wed Jul 15 00:00:00 EDT 2009 · Cardiovascular and Interventional Radiology

DOI:https://doi.org/10.1007/S00270-008-9344-2· OSTI ID:21428526

Carette, Marie-France; Nedelcu, Cosmina; Tassart, Marc ^[1]; Grange, Jean-Didier; Wislez, Marie ^[2]; Khalil, Antoine ^[1]

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1. AP-HP Tenon Hospital, Radiology Department (France)
2. Centre d'Accueil de la Maladie de Rendu Osler de Tenon (CAMROT) (France)

This pictorial review is based on our experience of the follow-up of 120 patients at our multidisciplinary center for hereditary hemorrhagic telangiectasia (HHT). Rendu-Osler-Weber disease or HHT is a multiorgan autosomal dominant disorder with high penetrance, characterized by epistaxis, mucocutaneous telangiectasis, and visceral arteriovenous malformations (AVMs). The research on gene mutations is fundamental and family screening by clinical examination, chest X-ray, research of pulmonary shunting, and abdominal color Doppler sonography is absolutely necessary. The angioarchitecture of pulmonary AVMs can be studied by unenhanced multidetector computed tomography; however, all other explorations of liver, digestive bowels, or brain require administration of contrast media. Magnetic resonance angiography is helpful for central nervous system screening, in particular for the spinal cord, but also for pulmonary, hepatic, and pelvic AVMs. Knowledge of the multiorgan involvement of HHT, mechanism of complications, and radiologic findings is fundamental for the correct management of these patients.

• OSTI ID: 21428526
• Journal Information: Cardiovascular and Interventional Radiology, Vol. 32, Issue 4; Other Information: DOI: 10.1007/s00270-008-9344-2; Copyright (c) 2009 Springer Science+Business Media, LLC and the Cardiovascular and Interventional Radiological Society of Europe (CIRSE); Article Copyright (c) 2008 Springer Science+Business Media, LLC; ISSN 0174-1551
• Country of Publication: United States
• Language: English

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62 RADIOLOGY AND NUCLEAR MEDICINE
BIOMEDICAL RADIOGRAPHY
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GENE MUTATIONS
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LIVER
MALFORMATIONS
SPINAL CORD
TELANGIECTASIS
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CARDIOVASCULAR SYSTEM
CENTRAL NERVOUS SYSTEM
DIAGNOSTIC TECHNIQUES
DIGESTIVE SYSTEM
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GLANDS
MEDICINE
MUTATIONS
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NUCLEAR MEDICINE
ORGANS
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SKIN DISEASES
TOMOGRAPHY
VASCULAR DISEASES