Graded contrast echocardiography in pulmonary arteriovenous malformations

Parra, José Antonio; Bueno, Jesús; Zarauza, Jesús; Fariñas-Álvarez, Carmen; Cuesta, Jose María Luzón; Ortíz, Pastor Luna; Zarrabeitia, Roberto; Molino, A.; Bustamante, M.; Botella, Luisa María; Delgado, Marco

doi:10.1183/09031936.00104309

Cited by 52 publications

(43 citation statements)

References 31 publications

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“…Long term follow up: Post embolisation CT at 6-12 months then 3 yearly; small untreated, or CE positive, 1-5 yearly. [47][48][49][50][51] , and frequency of positive results 52 . New natural history data re stroke/brain abscess (risks independent of PAVMs size imply need to treat all PAVMs feasible 34 ; migraines 53,54 ; pregnancy rupture 55 .…”

Section: Acknowledgmentsmentioning

confidence: 99%

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Hereditary haemorrhagic telangiectasia: Pathophysiology, diagnosis and treatment

2010

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Hereditary haemorrhagic telangiectasia, inherited as an autosomal dominant trait, affects approximately 1 in 5,000 people. The abnormal vascular structures in HHT result from mutations in genes (most commonly endoglin or ACVRL1) whose protein products influence TGF-ß superfamily signalling in vascular endothelial cells. The cellular mechanisms underlying the generation of HHT telangiectasia and arteriovenous malformations are being unravelled, with recent data focussing on a defective response to angiogenic stimuli in particular settings. For affected individuals, there is often substantial morbidity due to sustained and repeated haemorrhages from telangiectasia in the nose and gut. Particular haematological clinical challenges include the management of severe iron deficiency anaemia; handling the intricate balance of antiplatelet or anticoagulants for HHT patients in whom there are often compelling clinical reasons to use such agents; and evaluation of apparently attractive experimental therapies promoted in high profile publications when guidelines and reviews are quickly superseded. There is also a need for sound screening programmes for silent arteriovenous malformations. These occur commonly in the pulmonary, cerebral, and hepatic circulations, may haemorrhage, but predominantly result in more complex pathophysiology due to consequences of defective endothelium, or shunts that bypass specific capillary beds. This review will focus on the new evidence and concepts in this complex and fascinating condition, placing these in context for both clinicians and scientists, with a particular emphasis on haematological settings. Blood Reviews _ HHT 2010_ Shovlin 3 Overview of HHTHHT, also known as Osler Weber Rendu syndrome [1][2][3] , is one of the most common disorders to be inherited as an autosomal dominant trait. Careful epidemiological studies reveal that it affects approximately 1 in 5,000 individuals, 4,5 with regional differences, 6 and isolated communities displaying higher prevalences due to founder effects. 7 8 HHT was first described as a familial disease characterised by severe recurrent nasal and gastrointestinal bleeding with associated anaemia, and visible dilated blood vessels (telangiectasia) on the lips and finger tips. The majority of HHT patients are also affected by larger arteriovenous malformations (AVMs) in the pulmonary, hepatic, cerebral, pancreatic, spinal and other circulations. 1,2,9 These features, presented in more detail within Table 1, are used as criteria to diagnose HHT. 2 The spectrum of disease within the HHT umbrella has extended beyond the telangiectatic/AVM HHT pathology delineated by the Curaçao criteria. 2 More recently recognised features include pulmonary arterial hypertension 10 ; juvenile polyposis 11 ; pulmonary hypertension in the context of high output cardiac failure secondary to hepatic AVMs, when PH may be reversible after hepatic AVM treatment [12][13][14][15][16] ; a prothrombotic state associated with elevated plasma levels of factor VIII 17 , and poten...

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Section: Acknowledgmentsmentioning

confidence: 99%

“…Microscopic telangiectasia are observed not only in the skin, but also in other vascular beds such as the pulmonary circulation [91][92][93] where they are the presumed cause of low grade intrapulmonary right-left shunting detectable by contrast echocardiography in the absence of macroscopic vascular abnormalities [47][48][49][50][51][52] .…”

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Hereditary haemorrhagic telangiectasia: Pathophysiology, diagnosis and treatment

2010

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“…If patients were found to have a history of epistaxis, they were referred to an experienced otolaryngologist to look for telangiectases. Each patient had routine bloodwork, an oxygen shunt study, agitated saline transthoracic contrast echocardiography (as previously described [23,24]) and chest CT performed as routine baseline assessment for suspected PAVMs. Also, all subjects underwent further imaging studies to screen for AVMs in other visceral organs commonly affected in HHT.…”

Section: Clinical Assessments and Follow-upmentioning

confidence: 99%

Idiopathic pulmonary arteriovenous malformations: clinical and imaging characteristics

Wong

Chan

Klatt

et al. 2010

European Respiratory Journal

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Pulmonary arteriovenous malformations (PAVMs) can cause stroke, brain abscess or life-threatening haemorrhage. Most PAVMs are associated with hereditary haemorrhagic telangiectasia (HHT). The aim of the present study was to describe the clinical presentation and treatment outcomes of those with idiopathic PAVMs, which has not previously been described in the literature.Patients with idiopathic PAVMs were identified at our HHT centre. Retrospective review of charts and imaging were performed. 20 patients were identified with idiopathic PAVMs. The most common symptoms reported were dyspnoea and migraines (50 and 30% of patients, respectively). Previous complications of PAVMs included haemoptysis (20%), stroke (20%) and brain abscess (5%). A total of 28 focal PAVMs were identified. Most patients (80%) had a solitary PAVM. 13 out of 28 PAVMs (46%) were located in the lower lobes. Most were simple and fistulous rather than complex and plexiform. Transcatheter embolotherapy was performed in 17 patients and was successful in improving oxygenation in all cases.The clinical manifestations and complications of idiopathic PAVMs are similar to those associated with HHT. Idiopathic PAVMs are anatomically similar to HHT-related PAVMs except for a greater number of solitary PAVMs and a lack of lower lobe predominance. Transcatheter embolotherapy is a safe and effective method for treating idiopathic PAVMs.

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“…Overall, the cancer incidence during a mean follow-up of 9.5 years was 24% greater in exposed than in non-exposed people. Chest CT to detect PAVMs can safely be avoided in patients with an absence of, or grade 1, RLS on TTCE [8,10,15].…”

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confidence: 99%

“…In expert hands, it has excellent sensitivity and negative predictive value for the presence of PAVMs in children and adults. Several grading scales are used in different HHT centres to quantify the pulmonary RLS size [6][7][8]. Microbubbles of air in agitated saline may expose patients with RLS to the risk of cerebral air emboli inducing migraine, blurred vision, numbness and paraesthesia, but these symptoms resolve quickly without residual side effects [9,10].…”

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How to follow-up patients with hereditary haemorrhagic telangiectasia and suspected pulmonary arteriovenous malformations

Chinet

2016

Eur Respir J

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@ERSpublications Contrast echocardiography is useful for the follow-up of HHT patients with pulmonary arteriovenous malformations http://ow.ly/YNql5Pulmonary arteriovenous malformations (PAVMs) are abnormal vascular structures that connect one or several pulmonary arteries to one or several pulmonary veins without interposition of a capillary bed, resulting in a right-to-left shunt (RLS) [1]. Over 80% of PAVMs are associated with the genetic disease hereditary haemorrhagic telangiectasia (HHT). The vascular malformations predispose patients to severe complications due to paradoxical systemic emboli of thrombotic or septic origin, such as stroke and brain abscess [2][3][4][5]. The treatment of choice for PAVMs is transcatheter embolotherapy, although concerns are emerging regarding the long-term consequences of this procedure, especially in children [6].Because of the risk of severe complications, international guidelines recommend screening patients with HHT for the presence of PAVMs at the time of initial clinical evaluation and also after puberty, after pregnancy, within 5 years preceding a planned pregnancy, and otherwise every 5-10 years [7]. Transthoracic contrast echocardiography (TTCE) is the first-line screening technique for the detection of PAVMs in HHT [7]. In expert hands, it has excellent sensitivity and negative predictive value for the presence of PAVMs in children and adults. Several grading scales are used in different HHT centres to quantify the pulmonary RLS size [6][7][8]. Microbubbles of air in agitated saline may expose patients with RLS to the risk of cerebral air emboli inducing migraine, blurred vision, numbness and paraesthesia, but these symptoms resolve quickly without residual side effects [9,10]. To minimise this risk, many groups perform a chest radiograph prior to TTCE to detect large-size PAVMs, which are likely to carry the highest risk of complications from air bubbles. TTCE is therefore a safe diagnostic tool and its benefits undoubtedly outweigh its potential minor risks.One must bear in mind that TTCE does not detect PAVMs but rather pulmonary RLS. Chest computed tomography (CT) is considered the gold standard diagnostic tool for PAVMs as it enables visualisation of the vascular malformations (except microscopic ones) and provides essential information on their characteristics (shape, location, size of the feeding arteries, size of the aneurismal sac, etc.). Recent studies have reported that, in patients with HHT, the grade of pulmonary RLS on TTCE predicts the size of PAVMs on chest CT and the feasibility of subsequent transcatheter embolotherapy [7]. The absence of, or a small, pulmonary RLS (i.e. a low grade on TTCE) is associated with no risk of neurological complications and with PAVMs too small for embolisation [5,7].

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Graded contrast echocardiography in pulmonary arteriovenous malformations

Cited by 52 publications

References 31 publications

Hereditary haemorrhagic telangiectasia: Pathophysiology, diagnosis and treatment

Hereditary haemorrhagic telangiectasia: Pathophysiology, diagnosis and treatment

Idiopathic pulmonary arteriovenous malformations: clinical and imaging characteristics

How to follow-up patients with hereditary haemorrhagic telangiectasia and suspected pulmonary arteriovenous malformations

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