Contrast echocardiography for pulmonary arteriovenous malformations screening: does any bubble matter?

Gazzaniga, Pietro; Buscarini, Elisabetta; Leandro, Gioacchino; Reduzzi, L; Grosso, Maurizio; Pongiglione, Giacomo; Pedrinazzi, Claudio; Lanzarini, Luca; Portugalli, V.; Blotta, P.; Forner, PierAngelo; Boccardi, Edoardo; Pagella, Fabio; Manfredi, Guido; Olivieri, Carla; Zambelli, A.; Danesino, Cesare; Inama, Giuseppe

doi:10.1093/ejechocard/jen317

Cited by 88 publications

(80 citation statements)

References 22 publications

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“…In one series, positive contrast echocardiography reflecting intrapulmonary shunting was found in 85% of HHT1 patients, and 35% of HHT2 patients 52 compared to 7% of a control normal population. 47 Patients with HHT2 have a higher prevalence of hepatic AVMs, 23,[25][26][27] and of severe disease due to hepatic AVMs 27,70 . A single series suggests HHT2 patients may have more pancreatic AVMs 9 , and develop dermal telangiectasia earlier than in HHT1.…”

Section: 2b) Genotype Phenotype Correlationsmentioning

confidence: 99%

“…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%

“…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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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: 2b) Genotype Phenotype Correlationsmentioning

confidence: 99%

Section: Acknowledgmentsmentioning

confidence: 99%

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Hereditary haemorrhagic telangiectasia: Pathophysiology, diagnosis and treatment

2010

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“…Pulmonary and cerebral AVMs can cause complications, such as intracranial bleeding, brain abscess, ischaemic stroke and pulmonary haemorrhage, and screening of at-risk populations has been advocated [23][24][25][26][27][28][29][30][31][32]. Studies in adult patients have demonstrated that significant pulmonary and cerebral AVMs can be detected in asymptomatic patients [5,6,22,[31][32][33][34][35][36][37][38][39], and that preventative treatment can reduce the rate of complications [32]. This is less well established in children, and recent studies have suggested that the overall rate of complications is low in this age group [23,32].…”

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confidence: 99%

Screening for pulmonary and cerebral arteriovenous malformations in children with hereditary haemorrhagic telangiectasia

Al-Saleh¹,

Mei-Zahav²,

Me³

et al. 2009

European Respiratory Journal

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Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disease characterised by vascular dysplasia complicated by visceral arteriovenous malformations (AVMs). To date, the diagnostic yield of screening procedures for pulmonary and cerebral AVMs in children with definite or potential HHT is not well defined. The aim of the present study was to prospectively evaluate the diagnostic yield of a screening protocol for pulmonary and cerebral AVMs in children with either a definite or potential HHT diagnosis.All children referred for evaluation for HHT between 1996 and 2008 were included in the present analysis. Screening tests for AVMs included chest computed tomography and brain magnetic resonance imaging.61 children with a definite clinical and/or genetic diagnosis of HHT were asymptomatic for visceral AVMs at their first baseline assessment (mean¡SD age 8.7¡4.7 yrs; range 0-17.0 yrs). Of these, 15 (25%) had pulmonary and/or cerebral AVMs diagnosed on initial screening tests. Pulmonary AVMs predominated in paediatric HHT patients (14 out of 15 patients) and were found in eight children aged ,10 yrs. 55 children had a potential HHT diagnosis as they fulfilled only one or two HHT clinical diagnostic criteria and did not have a confirmatory genetic diagnosis (age 10.9¡4.8 yrs; range 0-17.9 yrs). None of these children had pulmonary or cerebral AVMs on initial screening tests.The present data suggest that children with a definite HHT diagnosis have a high frequency of pulmonary AVMs even when clinically asymptomatic. In contrast, no AVMs were observed in children not fulfilling HHT diagnostic criteria. Genetic testing appears to be useful in defining an at-risk group for pulmonary AVMs in childhood.

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“…Among screening modalities, TTCE appears to be the single most sensitive screening test for PAVMs [5] . TTCE alone [8] or in combination with plain chest radiography [5] has been reported to be 100% sensitive for, and able to definitively rule out, PAVMs in patients with shunts. At least some authors have argued, however, that addition of plain chest radiography to TTCE exposes patients to ionizing radiation without demonstrated improvement in detection of PAVMs [9] .…”

Section: Discussionmentioning

confidence: 99%

Transthoracic contrast echocardiography for detection of pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: How can the process be improved for patient safety?

Fan¹,

Choy²,

Shanks³

et al. 2014

IJDI

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Introduction: Patients with hereditary hemorrhagic telangiectasia (HHT) are at risk for pulmonary arteriovenous malformations (PAVMs). Extracardiac right-to-left shunts due to PAVMs can lead to systemic emboli; clinical sequelae including strokes and brain abscesses. Regular screening is required, with appropriate medical/interventional management to alleviate morbidity and mortality from PAVMs. International HHT guidelines recommend standardized transthoracic contrast echocardiogram (TTCE) with agitated saline (in an HHT Foundation-accredited laboratory) as the initial screening test, and, when needed, non-contrast computerized tomography of the chest (CT Chest) to follow up on a positive TTCE.Case presentation: A 40-year-old woman was seen for evaluation of HHT and referred for TTCE as part of her PAVM screen. Following administration of agitated saline, she developed a headache, visual changes in her right eye, and right arm weakness, followed by posturing and stiffness in her right arm. Her symptoms resolved after five minutes, consistent with a transient ischemic attack (TIA).Clinical impact: Protocols at our institution were amended following this index case and echocardiography laboratory protocols were adjusted to use a maximum of 0.1 cc air to 9.9 cc saline for TTCE studies in the HHT population. Only the attending echocardiologist who is familiar with possible systemic air embolism during bubble contrast echocardiography in patients with HHT should perform agitation and infusion of contrast and should directly review the images for appropriate visualization during the exam for this test to be appropriately interpreted. Paradoxical emboli due to right-to-left shunt are important to recognize. Best practice for PAVM screening in HHT patients includes use of standardized protocols for the performance and reporting of TTCE in the evaluation of pulmonary shunts.

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Contrast echocardiography for pulmonary arteriovenous malformations screening: does any bubble matter?

Abstract: CE is an extremely sensitive procedure for the detection of PAVMs with substantial clinical impact.

Cited by 88 publications

References 22 publications

Hereditary haemorrhagic telangiectasia: Pathophysiology, diagnosis and treatment

Hereditary haemorrhagic telangiectasia: Pathophysiology, diagnosis and treatment

Screening for pulmonary and cerebral arteriovenous malformations in children with hereditary haemorrhagic telangiectasia

Transthoracic contrast echocardiography for detection of pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: How can the process be improved for patient safety?

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