Imaging of Hereditary Hemorrhagic Telangiectasia

Carette, Marie-France; Nedelcu, C.; Tassart, M.; Grangé, Jean‐Didier; Wislez, Marie; Khalil, Antoine

doi:10.1007/s00270-008-9344-2

Cited by 45 publications

(46 citation statements)

References 21 publications

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“…Currently, the diagnosis of both congenital and acquired PAVFs is made by combining data from the patient's history, the physical examination, laboratory test results, chest radiographs, multidetector computed tomography scans, and TTCE. 3 The early shunting in this case was related to the proximal location of the fistula and to the massive shunting. 4 Pulmonary angiography is currently reserved for therapeutic purposes.…”

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confidence: 69%

Severe Refractory Hypoxemia 16 Years After a Gunshot Injury

et al. 2010

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A 53-year-old man presented with a history of depressant syndrome. He had been hospitalized 16 years previously because of penetrating traumatic injury of the left hemithorax by bullet secondary to a suicide attempt. Recently, he came to the emergency department for an illness leading to the discovery of severe hypoxemia refractory to nasal oxygen therapy. The arterial blood gas measurements revealed a pH of 7.41, a PaCO 2 of 41 mm Hg, a PaO 2 of 45 mm Hg, and O 2 saturation of 83% on ambient air; the PaO 2 increased to 85 mm Hg on inspired oxygen of 100%. resulting in a shunt of 30%. Multidetector computed tomography-angiography of the chest showed clearly a giant proximal pulmonary arteriovenous fistula ( Figure 1A and B and Movies 1 and 2 of the online Data Supplement). Transthoracic contrast echocardiography (TTCE) showed a massive early (in the third cardiac cycle) passage of microbubbles to the left side of the heart (Movie 3 of the online Data Supplement) without evidence of pulmonary artery hypertension or ventricular cavity enlargement. The diagnosis was a laterolateral fistula between the laterobasal segmental pulmonary artery (6 mm in diameter) and an aneurysmal sac draining toward an enlarged pulmonary vein (8 mm in diameter) and the distal pulmonary artery (4 mm in diameter). Clinical examination did not reveal a continuous murmur in the left posterior thorax. The draining artery was occluded first by a plug 10 mm in diameter, and the feeding artery was then occluded by a plug 12 mm in diameter (Figure 2A and B). The PaO 2 increased to 75 mm Hg with a residual physiological shunt of 6%. Three-month multidetector computed tomography-angiography follow-up showed a decrease in the aneurysmal sac and the draining vein. One year later, TTCE showed extinction microbubbles (right to left passage) (Movie 4 of the online Data Supplement), and the O 2 saturation was 96% on ambient air. The patient recovered uneventfully and at present continues to do well. Although penetrating chest trauma is a common emergency, the development of traumatic pulmonary arteriovenous fistulas (PAVFs) is exceedingly rare. 1 Dairywala et Figure 1. A, Three-dimensional image shows clearly the feeding pulmonary artery and the draining pulmonary vein with a laterolateral fistula. B, Selective extracted three-dimensional image. Blue, pulmonary artery; red, draining vein. Figure 2. A, Selective pulmonary artery angiogram shows clearly the feeding pulmonary artery, the aneurysmal sac, the draining vein, and the distal portion of the pulmonary artery. B, Control pulmonary angiogram shows complete occlusion of the fistula by two plugs. From the Radiology Department

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confidence: 69%

Severe Refractory Hypoxemia 16 Years After a Gunshot Injury

et al. 2010

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“…It is characterized by vascular dysplasia, which results in the presence of multiple telangiectasias and AVMs involving the skin, mucous membranes, gastrointestinal tract, lungs, and other organs. These alterations are frequently associated with bleeding [4].…”

Section: Discussionmentioning

confidence: 99%

“…Cerebral lesions are less common (15e30% of patients), probably because they are often misdiagnosed. They can cause migraines, convulsions, ischemia, hemorrhages, and abscesses [4,9]. The incidence of AVMs involving the kidneys, ureters, bladder, and/or urethra is very low [10].…”

Section: Discussionmentioning

confidence: 99%

“…(Perfusion of the bile ducts depends exclusively on blood supplied by the hepatic artery.) [4]. The clinical diagnosis is based on the so-called Curacao criteria [11], which consist in epistaxis, mucocutaneous telangiectasias, visceral manifestations, and a positive family history.…”

Section: Discussionmentioning

confidence: 99%

“…Occasionally, patients with HHT do actually have cirrhosis (secondary to extensive necrotizing cholangitis), hepatocellular carcinoma or hemobilia secondary to rupture of arteriovenous malformations (AVMs) in the biliary tree [4].…”

Section: Introductionmentioning

confidence: 99%

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Hepatic sonography in patients with hereditary hemorrhagic telangiectasia hospitalized for epistaxis

Draghi

Presazzi

Danesino

et al. 2012

Journal of Ultrasound

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Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by the presence of telangiectasias and arteriovenous malformations in various organs and organ systems, including the liver. The most frequent clinical manifestation of HHT is epistaxis. In 2010 (JanuaryeDecember inclusive) 51 patients with HHT were admitted to the ENT ward of our hospital for epistaxis, and in accordance with routine protocols, all 51 underwent abdominal ultrasonography in our department to detect hepatovascular lesions. They included 27 males (53%) and 24 (47%) females ranging in age from 11 to 86 years (mean 48.5 years). The sample was selected in an arbitrary manner to take maximum advantage of the hospital stay and monitor patients from regions other than our own. Retrospective analysis of the findings from these sonographic examinations revealed hepatic HHT in 27 (53%) of the 51 patients. Nineteen (70%) of these (age range 40e86 years, mean 63) had vascular malformations of various dimensions but no portal hypertension; the other eight (30%) (age range 39e81 years, mean 60) had vascular malformations plus portal hypertension. Our retrospective analysis indicates that a significant number of patients can have unrecognized hepatic involvement; that the appearance of hepatic lesions can be fairly unpredictable, even when the HHT has been diagnosed for years and the patients are already symptomatic; and that the hepatic lesions are frequently progressive. Therefore, regular sonographic follow-up is advisable for patients with HHT. The limitations of this study are related to the small number of patients examined and to the fact that all of them were symptomatic. Further study is therefore needed (especially in asymptomatic patients) to define the indications for hepatic sonography and the optimum examination schedule. Sommario La telangectasia emorragica ereditaria è una malattia autosomica dominante caratterizzata dalla presenza di telangectasie e di malformazioni artero-venose in vari organi e apparati. La sua manifestazione clinica più frequente è l'epistassi. Nel 2010 (gennaio-dicembre inclusi) 51 pazienti sono stati ricoverati nel reparto di otorinolaringoiatria (ORL) del nostro ospedale per epistassi e, secondo la loro prassi, tutti i 51 pazienti sono stati sottoposti a ecografia dell'addome nel nostro reparto per la ricerca di lesioni epatiche. Il campione era costituito da 27 maschi (53%) e 24 (47%) femmine, di età compresa tra 11 e 86 anni (media 48,5). È stato scelto questo campione in maniera arbitraria per sfruttare al meglio il tempo del ricovero e per monitorare pazienti provenienti anche da altre regioni. L'analisi retrospettiva dei reperti emersi all'ecografia ha mostrato lesioni epatiche da teleangectasia emorragica ereditaria (HHT) in 27 (53%) dei 51 pazienti. Diciannove di questi (70%), con età compresa tra 40 e 86 anni (media di 63), avevano solo malformazioni vascolari di varia entità, senza ipertensione portale, gli altri 8 (30%) (con età compresa tra 39 e 81 anni, età med...

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4D time‐resolved magnetic resonance angiography for noninvasive assessment of pulmonary arteriovenous malformations patency

Boussel

Cernicanu

Geerts

et al. 2010

Magnetic Resonance Imaging

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Purpose: To assess the capability of four-dimensional (4D) time-resolved magnetic resonance angiography (MRA) to assess pulmonary arteriovenous malformations (PAVMs) patency by analyzing pulmonary arterial and venous enhancement kinetics. ; dynamic scan time (temporal resolution) 1.2 seconds; total acquisition time 18.1 seconds for six dynamic datasets (6 Â 1.2 sec þ reference scan: 10.9 sec). All images were reviewed by two experienced radiologists. Image quality was rated on a qualitative 5-point scale (1: not assessable to 5: excellent). Signal value was measured on cross-sectional planes for the afferent arteries and efferent veins of the PAVM, and for normal reference healthy arteries and veins. The difference in time to peak for each coupled artery/vein (dTTPav) was calculated and compared with a MannWhitney test between PAVMs and reference vessels.Results: Mean image quality was 3.2 6 0.9. dTTPav was significantly smaller in PAVMs (0.15 6 0.76 sec) than in reference vessels (3.75 6 1.62 sec), P < 0.001.Conclusion: 4D-MRA is a promising tool for noninvasive assessment of PAVM patency.

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Imaging of Hereditary Hemorrhagic Telangiectasia

Cited by 45 publications

References 21 publications

Severe Refractory Hypoxemia 16 Years After a Gunshot Injury

Severe Refractory Hypoxemia 16 Years After a Gunshot Injury

Hepatic sonography in patients with hereditary hemorrhagic telangiectasia hospitalized for epistaxis

4D time‐resolved magnetic resonance angiography for noninvasive assessment of pulmonary arteriovenous malformations patency

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