Follow-up of the pulmonary right-to-left shunt with transthoracic contrast echocardiography in patients with hereditary haemorrhagic telangiectasia

Pulmonary arteriovenous malformations (PAVMs) are associated with severe neurological complications in hereditary haemorrhagic telangiectasia (HHT). Transthoracic contrast echocardiography (TTCE) is recommended for screening of pulmonary right-to-left shunts (RLS). Although growth of PAVMs is shown in two small studies, no studies on follow-up with TTCE exist.All HHT patients underwent a second TTCE 5 years after initial screening. Patients with a history of PAVM embolisation were excluded. Pulmonary RLS grade on TTCE after 5 years was compared to the grade at screening.200 patients (53.5% female, mean±sd age at screening 44.7±14.1 years) were included. Increase in RLS grade occurred in 36 (18%) patients, of whom six (17%) underwent embolisation. The change in grade between screening and follow-up was not more than one grade. Of patients with nontreatable pulmonary RLS at screening (n=113), 14 (12.4%) underwent embolisation. In patients without pulmonary RLS at initial screening (n=87), no treatable PAVMs developed during follow-up.Within 5 years, no treatable PAVMs developed in HHT patients without pulmonary RLS at initial screening. Increase in pulmonary RLS grade occurred in 18% of patients, and never increased by more than one grade. Of patients with nontreatable pulmonary RLS at initial screening, 12% underwent embolisation.

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The role of transthoracic contrast echocardiography in the clinical diagnosis of hereditary haemorrhagic telangiectasia

European Heart Journal ◽

10.1093/eurheartj/eht309.p3820 ◽

2013 ◽

Vol 34 (suppl 1) ◽

pp. P3820-P3820

Author(s):

S. Velthuis ◽

V. M. M. Vorselaars ◽

M. W. F. Van Gent ◽

C. J. J. Westermann ◽

R. J. Snijder ◽

...

Keyword(s):

Clinical Diagnosis ◽

Contrast Echocardiography ◽

Hereditary Haemorrhagic Telangiectasia ◽

Transthoracic Contrast Echocardiography

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Reproducibility of right-to-left shunt quantification using transthoracic contrast echocardiography in hereditary haemorrhagic telangiectasia

Netherlands Heart Journal ◽

10.1007/s12471-018-1094-4 ◽

2018 ◽

Vol 26 (4) ◽

pp. 203-209 ◽

Cited By ~ 3

Author(s):

V. M. M. Vorselaars ◽

S. Velthuis ◽

M. P. Huitema ◽

A. E. Hosman ◽

C. J. J. Westermann ◽

...

Keyword(s):

Contrast Echocardiography ◽

Hereditary Haemorrhagic Telangiectasia ◽

Transthoracic Contrast Echocardiography

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Massive haemorrhagic complications of ruptured pulmonary arteriovenous malformations: outcomes from a 12 years’ retrospective study

BMC Pulmonary Medicine ◽

10.1186/s12890-021-01604-5 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Xu Ma ◽

Bing Jie ◽

Dong Yu ◽

Ling-Ling Li ◽

Sen Jiang

Keyword(s):

Arteriovenous Malformations ◽

Arterial Oxygen Saturation ◽

Arterial Oxygen ◽

Hereditary Haemorrhagic Telangiectasia ◽

Pulmonary Arteriovenous Malformations ◽

Imaging Data ◽

Peripheral Lung ◽

Life Threatening ◽

The Mean

Abstract Background The life-threatening haemorrhagic complications of pulmonary arteriovenous malformations (PAVMs) are extremely rare, and only described in isolated cases. This study was designed to comprehensively investigate management of ruptured PAVMs. Methods We retrospectively assessed clinical and imaging data of ruptured PAVMs to summarize incidence, clinical characteristics, and outcomes following embolisation between January 2008 and January 2021. Results Eighteen of 406 (4.4%) patients with PAVMs developed haemorrhagic complications. Twelve of 18 patients were clinically diagnosed with hereditary haemorrhagic telangiectasia (HHT). Haemorrhagic complications occurred with no clear trigger in all cases. Eight of 18 patients (44.4%) were initially misdiagnosed or had undergone early ineffective treatment. 28 lesions were detected, with 89.3% of them located in peripheral lung. Computed tomography angiography (CTA) showed indirect signs to indicate ruptured PAVMs in all cases. Lower haemoglobin concentrations were associated with the diameter of afferent arteries in the ruptured lesions. Successful embolotherapy was achieved in all cases. After embolotherapy, arterial oxygen saturation improved and bleeding was controlled (P < 0.05). The mean follow-up time was 3.2 ± 2.5 years (range, 7 months to 10 years). Conclusions Life threatening haemorrhagic complications of PAVMs are rare, they usually occur without a trigger and can be easily misdiagnosed. HHT and larger size of afferent arteries are major risk factors of these complications. CTA is a useful tool for diagnosis and therapeutic guidance for ruptured PAVMs. Embolotherapy is an effective therapy for this life-threatening complication.

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Closure of the nasal cavities in the treatment of refractory hereditary haemorrhagic telangiectasia

The Journal of Laryngology & Otology ◽

10.1017/s0022215100136369 ◽

1997 ◽

Vol 111 (1) ◽

pp. 30-33 ◽

Cited By ~ 54

Author(s):

Valerie J. Lund ◽

David J. Howard

Keyword(s):

Hormone Therapy ◽

Laser Coagulation ◽

Hereditary Haemorrhagic Telangiectasia ◽

Nasal Cavities ◽

Complete Closure ◽

The One

AbstractFrom a cohort of 35 patients with hereditary haemorrhagic telangiectasia (HHT), 12 patients have undergone closure of the one or both nasal cavities during the last three years for refractory epistaxis. All had failed other forms of treatment including hormone therapy, laser coagulation and septodermoplasty. All patients were available for follow-up at six months or longer. In all patients where complete closure was achieved (11 out of 12) bleeding ceased completely from the operated side.

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Perfusion defects on real-time myocardial contrast echocardiography predict higher mortality in patients with end-stage renal disease – A 3-year follow-up

Renal Failure ◽

10.3109/0886022x.2010.516855 ◽

2010 ◽

Vol 32 (10) ◽

pp. 1160-1166 ◽

Cited By ~ 2

Author(s):

Anna Tomaszuk-Kazberuk ◽

Bozena Sobkowicz ◽

Jolanta Malyszko ◽

Jacek S. Malyszko ◽

Marek Kalinowski ◽

...

Keyword(s):

Renal Disease ◽

Real Time ◽

End Stage Renal Disease ◽

Contrast Echocardiography ◽

Myocardial Contrast Echocardiography ◽

Perfusion Defects ◽

Stage Renal Disease ◽

End Stage

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Real-time myocardial perfusion contrast echocardiography and regional wall motion abnormalities after aneurysmal subarachnoid hemorrhage

Journal of Neurosurgery ◽

10.3171/2009.3.jns081723 ◽

2009 ◽

Vol 111 (5) ◽

pp. 1023-1028 ◽

Cited By ~ 9

Author(s):

Sahar S. Abdelmoneim ◽

Eelco F. M. Wijdicks ◽

Vivien H. Lee ◽

Wilson P. Daugherty ◽

Mathieu Bernier ◽

...

Keyword(s):

Blood Flow ◽

Cardiac Dysfunction ◽

Wall Motion ◽

Myocardial Dysfunction ◽

Contrast Echocardiography ◽

Regional Wall Motion ◽

Regional Wall ◽

Regional Wall Motion Abnormalities ◽

Wall Motion Abnormalities

Object The pathophysiology of myocardial dysfunction after subarachnoid hemorrhage (SAH) remains unclear. Using myocardial real-time perfusion contrast echocardiography (RTP-CE), the authors evaluated microvascular function in patients with acute SAH. Methods Over a 15-month period, 10 patients with acute SAH and evidence of cardiac dysfunction were prospectively enrolled. The authors performed RTP-CE within 48 hours of SAH diagnosis. Wall motion and myocardial perfusion were evaluated in 16 left ventricle segments. Qualitative and quantitative RTP-CE analyses were conducted to compare patients with and without regional wall motion abnormalities (RWMAs). Follow-up RTP-CE at a mean of 53.7 ± 43 days was undertaken in patients with baseline RWMAs. Results Ten patients with SAH and evidence of cardiac dysfunction were prospectively enrolled. There were 3 men and 7 women whose mean age was 63.5 ± 10.1 years. The authors documented evidence of RWMAs in 6 patients. Normal perfusion was demonstrated by RTP-CE in all patients at baseline and follow-up, despite the presence of RWMAs. Compared with patients presenting with normal wall motion, in patients with RWMAs there was a trend for higher quantitative RTP-CE parameters, suggesting hyperemia with mean myocardial blood flow velocity (β, s−1) of 1.08 ± 0.61 (95% CI 0–2.61) compared with 1.62 ± 0.64 (95% CI 0.94–2.29) and myocardial blood flow (A × β, dB/s) of 0.99 ± 0.41 (95% CI 0–2.0) versus 1.63 ± 0.86 (95% CI 0.72–2.53). Follow-up RTP-CE was feasible in 3 patients with RWMAs. Regional systolic function was restored in those who completed follow-up. Conclusions The authors found that RTP-CE readily evaluates microvascular function in patients with SAH. Wall motion and perfusion dissociation were observed. Quantitative RTP-CE showed a trend for microvascular hyperemia in patients with RWMAs, suggesting that post-SAH myocardial dysfunction could occur in the absence of microvascular dysfunction.

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Pulmonary arteriovenous malformations in children with hereditary hemorrhagic telangiectasia: a longitudinal study

Pulmonary Circulation ◽

10.1177/2045894018786696 ◽

2018 ◽

Vol 8 (3) ◽

pp. 204589401878669 ◽

Cited By ~ 7

Author(s):

Katie L. Mowers ◽

Lynn Sekarski ◽

Andrew J. White ◽

R. Mark Grady

Keyword(s):

Longitudinal Study ◽

Hereditary Hemorrhagic Telangiectasia ◽

Arteriovenous Malformations ◽

Clinical Symptoms ◽

Contrast Echocardiography ◽

Genetic Diagnosis ◽

Pulmonary Arteriovenous Malformations ◽

Initial Screening ◽

And Gender ◽

Transthoracic Contrast Echocardiography

Pulmonary arteriovenous malformations (PAVMs) often occur in children with hereditary hemorrhagic telangiectasia (HHT). A 14-year longitudinal study of PAVMs in children with HHT was undertaken to assess the prevalence, the clinical impact, and progression of these malformations. This was a retrospective, single-center study from May 2002 to December 2016 of 129 children with HHT diagnosed using Curacao criteria and/or confirmed by genetic testing. Transthoracic contrast echocardiography (TTCE) was the primary screening modality in all patients and PAVMs were diagnosed based on Barzilai criteria. Moderately positive TTCE (Barzilai criteria ≥ 2) was confirmed with subsequent contrast chest CT. New PAVMs were diagnosed with a positive TTCE after an initial negative TTCE. Embolization of PAVMs were performed according to HHT consensus guidelines. Of 129 children with HHT, 76 (59%) were found to have PAVMs. Sixty-seven (88%) were positive for PAVMs on initial screening. Of 63 children without PAVMs on initial screening, 31 were followed for >1 year. Nine of the 31 (29%) developed new PAVMs after initial negative study. Thirty-eight (50%) of the total 76 children with PAVMs had or developed lesions large enough to be treated with embolization. Nine patients with PAVMs initially too small to be treated with embolization, developed progression of disease and ultimately were treated with embolization over time. The majority, 60% (23/38), of the children with large PAVMs had no related clinical symptoms. After embolization, 21% (8/38), of patients underwent repeat interventions. Genetic diagnosis, age, and gender were not associated with risk of having PAVM nor with need for repeat interventions. Nearly 60% of children with HHT develop PAVMs. The risk for new PAVMs to develop, small PAVMs to become large, and previously embolized PAVMs to require further intervention remains throughout childhood. Thus, children with HHT require continued follow-up until adulthood.

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The use of echo density to quantify pulmonary right-to-left shunt in transthoracic contrast echocardiography

European Heart Journal - Cardiovascular Imaging ◽

10.1093/ehjci/jeaa155 ◽

2020 ◽

Author(s):

Steven Kroon ◽

Mitch C J Van Thor ◽

Veerle M M Vorselaars ◽

Anna E Hosman ◽

Martin J Swaans ◽

...

Keyword(s):

Contrast Echocardiography ◽

Chest Ct ◽

Independent Study ◽

Ct Scans ◽

Strongly Correlated ◽

History Of ◽

Study Population ◽

Novel Method ◽

Grading Scale ◽

Transthoracic Contrast Echocardiography

Abstract Aims Transthoracic contrast echocardiography (TTCE) is the recommended screening tool to detect pulmonary right-to-left shunt (RLS) caused by pulmonary arteriovenous malformations (PAVMs). We assessed a novel method to quantify the RLS using the change in echo density (ED) following contrast injection. Methods and results An analysis of 437 consecutive patients [58% female, 47 years, interquartile range (IQR) 33–60] who underwent TTCE for the detection of a pulmonary RLS. Using ImageJ (National Institutes of Health), the change in ED was measured for each patient. This method was strongly correlated (Spearman’s ρ = 0.89; P < 0.0001) with our standard method based on a four-point grading scale (no, mild, moderate, and severe RLS). In patients without a history of embolotherapy (n = 334), a PAVM was detected with chest computed tomography (CT) in 66 and embolotherapy was judged possible in 35 of these patients. The median increase in ED was higher in the latter: +20.1% (IQR 12.3–34.0) compared to non-treatable PAVM +0.2% (IQR −0.2 to 1.1). The specificity to detect treatable PAVMs increased from 87% to 90% when using the novel method without affecting the sensitivity (of 100%). Using the optimal cut-off value of +4.5% increase in ED, 8/74 (11%) needed chest CT-scans—individuals with a moderate or severe RLS—were no longer required without missing any treatable PAVM. Conclusions The use of ED quantification for pulmonary RLS is promising; resulting in a substantial decrease in the number of chest CT scans needed. However, this method and the threshold should be validated in an independent study population.

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Endovascular treatment of intractable epistaxis - results of a 4-year local audit

South African Journal of Radiology ◽

10.4102/sajr.v8i3.118 ◽

2004 ◽

Vol 8 (3) ◽

pp. 9 ◽

Cited By ~ 2

Author(s):

Ian C Duncan ◽

P.A. Fourie ◽

C.E. Le Grange ◽

H.A. Van der Walt

Keyword(s):

Success Rate ◽

Morbidity Rate ◽

Hereditary Haemorrhagic Telangiectasia ◽

Artery Ligation ◽

Endovascular Embolisation ◽

Long Term Follow Up ◽

Initial Procedure ◽

Intractable Epistaxis

A total of 57 endovascular embolisation procedures were performed for intractable epistaxis in 51 patients over a 4-year period at the Unitas Interventional Unit near Pretoria. Long-term follow-up was possible in 36 patients. Three cases were due to trauma and 2 directly related to previous facial surgery, 1 patient had hereditary haemorrhagic telangiectasia (HHT), and the remaining 45 cases (88.2%) were classed as idiopathic. Eight patients (15.7%) had a rebleed between 1 and 33 days after the initial embolisation. Four were re-embolised once, 1 was re-embolised twice (the HHT patient), and 2 underwent additional ethmoid artery ligation (with no further bleeding). This gives a primary short-term success rate (in all 51 cases) of 86.3% and a secondary assisted success rate of 94.1% for embolisation alone. Long-term follow- up was obtained in 36 patients, with 35 (97.2%) reporting no further bleeding after the initial procedure(s). Only the patient with HHT developed multiple recurrent bleeds. The mortality rate was 0%, the major morbidity rate 2% (1 stroke), and the minor morbidity rate 25% (N = 36), which included transient facial pain, headaches and femoral problems related to access. Our results compare favourably with other published series. In conclusion, endovascular embolisation for intractable epistaxis is available locally as an alternative technique for the treatment

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