High risk of ischaemic stroke amongst patients with hereditary haemorrhagic telangiectasia.

BACKGROUND AND PURPOSE: Hereditary haemorrhagic telangiectasia (HHT) is a genetic disease with fragile blood vessels and vascular malformations, potentially causing neurological manifestations, including stroke and cerebral abscesses. The study aimed to investigate neurological manifestations in the Danish HHT database, focusing on pulmonary arteriovenous malformations (PAVMs) as a risk factor for cerebral events. METHODS: Retrospective analysis of the Danish HHT database was conducted, cross-referencing neurological outcomes with the Danish Apoplexy Register for accuracy. Patients were stratified by HHT type. Primary outcomes included ischaemic stroke, transient ischaemic attack and cerebral haemorrhage. Secondary outcomes comprised age, age at HHT diagnosis, age at cerebral ischaemic event, and PAVM and cerebral arteriovenous malformation status. RESULTS: Six hundred and sixty-four HHT patients were included. PAVM was diagnosed in 54% of patients, with higher prevalence in HHT type 1 (70%) compared to HHT type 2 (34%) and juvenile polyposis HHT (66%). Ischaemic stroke or transient ischaemic attack occurred in 12.5%, with a higher risk associated with macroscopic PAVM. Logistic regression showed a nearly 10 times increased risk of ischaemic stroke with macroscopic PAVM. Cerebral abscesses occurred in 3.2% of patients, all with macroscopic PAVM. Incomplete PAVM closure increased cerebral abscess risk. CONCLUSION: This study provides valuable insights into the prevalence of neurological manifestations and vascular events in HHT patients. The presence of PAVM was associated with an increased risk of ischaemic stroke, highlighting the importance of early screening and intervention. The findings emphasize the need for comprehensive management strategies targeting both vascular and neurological complications in HHT patients, especially regarding secondary stroke prevention.

Prenatal diagnosis of pulmonary arteriovenous malformations with a postnatal diagnosis of Osler-Weber-Rendu syndrome.

Hereditary Hemorrhagic Telangiectasia (HHT), commonly known as Osler-Weber-Rendu disease, is an autosomal dominant multisystemic vascular disease associated with approximately 70% of cases of pulmonary arteriovenous malformations (PAVMs). Prenatal cases of PAVMs typically present with pulmonary vein dilatation on ultrasonography. This study presents a prenatal diagnosis of PAVMs with enlarged right pulmonary vein, cardiomegaly, cystic-appearing areas in the right lung and subsequent confirmation of Osler-Weber-Rendu syndrome using autopsy and whole exom sequencing.

Endothelial-to-Mesenchymal Transition in an Hereditary Hemorrhagic Telangiectasia-like Pediatric Case of Multiple Pulmonary Arteriovenous Malformations.

Pulmonary arteriovenous malformations (PAVMs) are vascular anomalies resulting in abnormal connections between pulmonary arteries and veins. In 80% of cases, PAVMs are present from birth, but clinical manifestations are rarely seen in childhood. These congenital malformations are typically associated with Hereditary Hemorrhagic Telangiectasia (HHT), a rare disease that affects 1 in 5000/8000 individuals. HHT disease is frequently caused by mutations in genes involved in the TGF-ß pathway. However, approximately 15% of patients do not have a genetic diagnosis and, among the genetically diagnosed, more than 33% do not meet the Curaçao criteria. This makes clinical diagnosis even more challenging in the pediatric age group. Here, we introduce an 8-year-old patient bearing a severe phenotype of multiple diffuse PAVMs caused by an unknown mutation which ended in lung transplantation. Phenotypically, the case under study follows a molecular pattern which is HHT-like. Therefore, molecular- biological and cellular-functional analyses have been performed in primary endothelial cells (ECs) isolated from the explanted lung. The findings revealed a loss of functionality in lung endothelial tissue and a stimulation of endothelial-to-mesenchymal transition. Understanding the molecular basis of this transition could potentially offer new therapeutic strategies to delay lung transplantation in severe cases.

Efficacy and Safety of Venous Sac Embolization With or Without Feeding Artery Embolization Versus Feeding Artery Embolization Alone in the Management of Pulmonary Arteriovenous Malformations: A Systematic Review and Meta-analysis.

PURPOSE: To evaluate by meta-analysis the safety and efficacy of venous sac embolization (VSE) with or without feeding artery embolization versus feeding artery embolization (FAE) alone in the management of pulmonary arteriovenous malformations (PAVMs). METHODS: This systematic review and meta-analysis was performed and reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A systematic literature search was performed in MEDLINE, Embase, and Scopus till August 31, 2021 to identify studies comparing the safety and efficacy of VSE with or without FAE versus FAE alone in PAVMs. The success of treatment was assessed by comparing the number of PAVMs with ≥70% decrease in the size of draining vein/sac between the 2 groups. The pooled odds ratio (OR) and 95% confidence interval (95% CI) were calculated using the random-effects inverse-variance model and were used to compare pooled therapeutic efficacy between the groups. RESULTS: Three studies were found eligible for the meta-analysis. The included studies had a total of 169 patients (119 females and 50 males). The total number of PAVMs was 298, and hereditary hemorrhagic telangiectasia was present in 119 patients. The success of treatment was higher with VSE as compared to FAE (OR=3.54, 95% CI=1.66-7.56). The minor complications were similar in both groups, and one major complication occurred in the FAE group. More coils were used in the VSE group. CONCLUSIONS: The present systematic review and meta-analysis has consolidated the evidence that VSE with or without FAE is more efficacious than FAE alone in the management of PAVMs without any increase in the associated risk of sac rupture or coil migration. CLINICAL IMPACT: Until high-quality data from a prospective, multicentric, randomized controlled trial becomes available, the evidence consolidated by the present systematic review and meta-analysis showing the efficacy of venous sac embolization (with or without feeding artery embolization) over feeding artery embolization alone, can be used for clinical decision-making in the management of pulmonary arterio-venous malformations.

Increases in oxygen saturation following discharge from Fontan palliation - an indicator of resolution of pulmonary arteriovenous malformations?

BACKGROUND: Pulmonary arteriovenous malformations in single ventricle congenital heart disease are poorly understood. Previous studies investigating pulmonary arteriovenous malformations predominantly focus on patients with heterotaxy syndrome and interrupted inferior caval vein. It is unknown if development and resolution of pulmonary arteriovenous malformations are similar for patients with and without heterotaxy syndrome. METHODS: In this retrospective single-institution study, we identified patients with a history of single ventricle congenital heart disease and Fontan palliation. We then matched patients with heterotaxy syndrome (intact and interrupted inferior caval vein) and non-heterotaxy hypoplastic left heart syndrome. To compare development of pulmonary arteriovenous malformations, we identified the frequency of positive diagnoses pre-Fontan. To compare resolution of pulmonary arteriovenous malformations, we recorded oxygen saturation changes for 12 months following Fontan. RESULTS: A total of 124 patients were included. Patients with heterotaxy and interrupted inferior caval vein were more likely to have a pre-Fontan contrast echocardiogram performed (p < 0.01) and more likely to be diagnosed with pulmonary arteriovenous malformations pre-Fontan (p < 0.01). There was no difference in oxygen saturation prior to Fontan, yet all patient groups had increased their oxygen saturations in the first year after Fontan discharge. CONCLUSIONS: Pulmonary arteriovenous malformations are variably diagnosed prior to Fontan palliation; however, all study groups had increased oxygen saturations after Fontan discharge, potentially indicating resolution of pulmonary arteriovenous malformations in all groups. The prevalence of pulmonary arteriovenous malformations pre-Fontan is likely underestimated. A quantitative, systematic approach to diagnosis and follow-up of pulmonary arteriovenous malformations is needed to better understand susceptibility and pathophysiology.

CT Angiography Findings of Pulmonary Arteriovenous Malformations in Children and Young Adults With Hereditary Hemorrhagic Telangiectasia.

OBJECTIVE. The purpose of this study was to evaluate the CT angiography (CTA) findings of pulmonary arteriovenous malformation (PAVMs) in patients with hereditary hemorrhagic telangiectasia and to correlate these findings with those of graded contrast-enhanced transthoracic echocardiography (CE-TTE). MATERIALS AND METHODS. A retrospective review was conducted of PAVMs visualized at CTA of patients with abnormal CE-TTE findings (3-point scale). Location, distribution, size, number, volume, grade, and relative attenuation (attenuation of PAVM divided by attenuation of aorta) of PAVMs were recorded. PAVMs were graded as follows on conventional and maximum-intensity-projection (MIP) images: 0, nodule, unlikely PAVM; 1, ground-glass opacity (GGO); 2, GGO with increased vascular network; 3, GGO or nodule with single vessel; 4, GGO or nodule with two or more vessels; 5, GGO or nodule with afferent and larger efferent vessels; 6, mature arteriovenous malformation. Correlation between PAVM grade and relative attenuation and between CTA variables and CE-TTE grades was assessed. RESULTS. Forty patients (median age, 14.9 years; range, 0.6-27.9 years) had 117 PAVMs at CTA: 107 peripheral, eight central, and two both peripheral and central. None of the PAVMs was diffuse. Median size and volume were 0.4 cm (range, 0.1-4.4 cm) and 0.031 mL (range, 0.0009-10.019 mL). At CTA, seven PAVMs were grade 1, five grade 2, 28 grade 3, 62 grade 4, two grade 5, and 13 grade 6. MIP images showed 39 of 117 PAVMs were higher grade. Statistically significant correlation was found between relative attenuation and PAVM grade (p < 0.001, r = 0.58) in 40 patients and between all CTA variables and CE-TTE (p < 0.05, strongest correlation with highest grades [p < 0.0001, r = 0.81]) in 32 patients. CONCLUSION. In children and young adults with hereditary hemorrhagic telangiectasia, grade 4 PAVMs were most common. Higher-grade PAVMs more often have right-to-left shunts.

Elective left pulmonary artery embolisation for pulmonary arteriovenous malformations secondary to cavopulmonary anastomoses not responsive to heart transplantation: a case report.

A 10-year-old female with heterotaxy-asplenia and complex CHD developed pulmonary arteriovenous malformations with associated cyanosis after Fontan completion. She underwent orthotopic heart transplantation, but her pulmonary arteriovenous malformations persisted with progressive worsening cyanosis. Elective transcatheter left pulmonary artery embolisation was performed 2 years post-transplant, which successfully normalised her oxygen saturation without a significant increase in pulmonary artery pressure.

Thrombolysis in Ischemic Stroke Patients with Isolate Pulmonary Arteriovenous Malformations.

Pulmonary arteriovenous malformations are rare cause for ischemic stroke. British Thoracic Society Clinical Statement considered insufficient evidence of safety or clinical benefit to recommend thrombolysis for stroke with pulmonary arteriovenous malformations. For pulmonary arteriovenous malformations with hereditary hemorrhagic telangiectasia, bleeding risk after thrombolysis is high, while for isolate pulmonary arteriovenous malformations, bleeding risk is much lower. We here present 2 cases of ischemic stroke with isolate pulmonary arteriovenous malformations treated with thrombolysis. Right-to-left shunt was found by contrast-enhanced transcranial Doppler in these 2 patients and pulmonary arteriovenous malformations were confirmed by contrast-transthoracic echocardiography and thoracic computed tomography angiography. Neurological signs improved after intravenous thrombolysis without bleeding complication.

Embolisation of pulmonary arteriovenous malformations - case series.

PURPOSE: Pulmonary arteriovenous malformations (PAVM) are the direct communications between the pulmonary arteries and veins. These malformations can cause serious complications, and most of these patients should be treated. Herein we present our experience in the treatment of 18 cases of PAVM, treated with endovascular embolisation. MATERIAL AND METHODS: Eighteen patients with PAVMs underwent endovascular embolisation during a five-year period. Eight were male and 10 were female, with ages ranging from 16 to 65 years. Standard steel coils and vascular plug were used for embolisation. RESULTS: Embolisation was successful in 17 of 18 patients. Coiling was used in 10 patients, vascular plug in five, and both materials in two patients. All symptomatic patients with successful embolisation lost all their symptoms after treatment. Control angiography after embolisation showed a closure of AV shunt without migration of embolic material in all patients. Post-embolisation syndrome developed in four patients and late onset of pleural pain in three patients. There was no connection between pleural reaction and type of PAVM and embolic material. CONCLUSIONS: Endovascular PAVM treatment is a minimally invasive, highly successful method with a low rate of only transitory complications.

The Lung in Hereditary Hemorrhagic Telangiectasia.

Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited genetic vascular disorder with an estimated prevalence of 1 in 6,000, characterized by recurrent epistaxis, cutaneous telangiectasia, and arteriovenous malformations (AVMs) that affect many organs including the lungs, gastrointestinal tract, liver, and brain. Its diagnosis is based on the Curaçao criteria, and is considered definite if at least 3 of the 4 following criteria are fulfilled: (1) spontaneous and recurrent epistaxis, (2) telangiectasia, (3) a family history, and (4) pulmonary, liver, cerebral, spinal, or gastrointestinal AVMs. The focus of this review is on delineating how HHT affects the lung.

The relationship between right-to-left shunt and brain white matter lesions in Japanese patients with migraine: a single center study.

BACKGROUND: There may be a link between right-to-left shunt (RLs) and brain white matter lesions (WMLs) in patients with migraine. In this study, we assessed the relationship between WMLs and RLs in Japanese migraine patients. METHODS: A total of 107 consecutive patients with migraine with (MA) and without aura (MWOA) were included in this study. Contrast transcranial Doppler ultrasound was used to detect RLs. WMLs were graded using brain magnetic resonance imaging based on well-established criteria. FINDINGS: The prevalence of RLs was significantly increased in the WMLs positive group (n = 24) compared with the WMLs negative group (n = 83) (75.0% vs. 47.0%, p = 0.015). In prevalence of WMLs between MA and MWOA patients, there were no statistical differences (p = 0.410). Logistic regression analysis adjusted by age and disease duration of migraine identified an RLs-positive status as the sole determinant for the presence of WMLs (OR = 6.15; 95% CI 1.82-20.8; p = 0.003) CONCLUSION: Our study suggests a possible link between RLs and WMLs in Japanese patients with migraine.

Vein Diameter on Unenhanced Multidetector CT Predicts Reperfusion of Pulmonary Arteriovenous Malformation after Embolotherapy.

OBJECTIVE: To evaluate the value of the diameter of the draining vein of pulmonary arteriovenous malformation (PAVM) on unenhanced chest MDCT in diagnosing reperfusion after percutaneous vaso-occlusion therapy. METHODS: We retrospectively reviewed our long-term experience of patients with hereditary haemorrhagic telangiectasia and selected cases on the following criteria: an initial pulmonary angiogram with embolotherapy of at least one PAVM, a follow-up MDCT examination in the following year followed by a second pulmonary angiogram with embolotherapy if needed. Follow-up unenhanced chest MDCT examinations were analyzed blindly from results of pulmonary artery angiogram and clinical data, the diameter of the efferent vein close to the PAVM sac was measured, then compared to those of pulmonary artery angiogram as a gold standard. RESULTS: Eighty-eight of 100 patients met inclusion criteria, in whom 62 of 176 PAVMs were reperfused at angiogram. The mean diameter of the efferent vein on MDCT was 4.3 ± 2.1 mm in patent PAVMs and 1.8 ± 0.9 mm in non-patent PAVMs (p < 0.0001). The optimal cutoff diameter based on ROC analysis was 2.5 mm (sensitivity = 98.4 %; specificity = 87.7 %). CONCLUSION: A diameter of the draining vein of PAVM of 2.5 mm or greater on unenhanced MDCT is a strong predictor of reperfusion. KEY POINTS: • Diameter of draining vein of 2.5 mm or greater is associated with reperfusion. • Unenhanced chest MDCT predicts reperfusion of PAVMs with good sensitivity and specificity. • Unenhanced MDCT can guide a decision of repeat pulmonary angiogram and embolotherapy. • The mean vein diameter change of PAVMs occluded at follow-up is 3.8 mm. • Overall success rate after a median of 6 months embolotherapy was 64.7 %.

Injections of Intravenous Contrast for Computerized Tomography Scans Precipitate Migraines in Hereditary Hemorrhagic Telangiectasia Subjects at Risk of Paradoxical Emboli: Implications for Right-to-Left Shunt Risks.

OBJECTIVE: To evaluate if injection of intravenous particles may provoke migraines in subjects with right-to-left shunts due to pulmonary arteriovenous malformations (AVMs). BACKGROUND: Migraine headaches commonly affect people with hereditary hemorrhagic telangiectasia (HHT), especially those with pulmonary AVMs that provide right-to-left shunts. In our clinical practice, patients occasionally reported acute precipitation of migraine headaches following injection of technetium-labeled albumin macroaggregates for nuclear medicine scans. METHODS: Self-reported migraine features and exacerbations were examined in HHT subjects with and without pulmonary AVMs, for a series of noninvasive and invasive investigations, using an unbiased online survey. RESULTS: One hundred and sixty-six subjects were classified as having both HHT and migraines. HHT subjects with migraines were more likely to have pulmonary AVMs (P < .0001). HHT subjects with pulmonary AVMs were more likely to report photophobia (P = .010), "flashes of light" (P = .011), or transient visual loss (P = .040). Pulse oximetry, x-rays, ultrasound, and computerized tomography (CT) scans without intravenous contrast medium rarely, if ever, provoked migraines, but unenhanced magnetic resonance imaging (MRI) was reported to exacerbate migraines by 14/124 (11.2%) subjects. One hundred and fourteen subjects had both enhanced and unenhanced CT examinations: studies with contrast media were more commonly reported to start (9/114 [7.8%]), and/or worsen migraines (18/114 [15.7%]), compared to those undertaken without contrast medium (P < .01), or after simple blood tests (P < .05). Additionally, migraine exacerbation was reported by 9/90 (10%) after contrast echocardiography, 2/44 (4.5%) after nuclear medicine scans, and 10/154 (6.5%) after blood tests. CONCLUSIONS: HHT subjects frequently report migraine exacerbation following blood tests, contrast echocardiograms, MRI imaging, and CT studies performed with intravenous contrast medium. Since air emboli are recognized to complicate intravenous injections, particularly those given by a pressurized pump during contrast enhanced CT, future studies should re-evaluate whether particulate emboli provoke migraines.

Ischaemic stroke in a 21-year-old with hereditary haemorrhagic telangiectasia.

A 21-year-old man presented with an acute ischaemic stroke. He had a history of epistaxis and a family history of hereditary haemorrhagic telangiectasia. We gave thrombolysis after some deliberation, and he made a good neurological recovery. This case highlights the link between hereditary haemorrhagic telangiectasia and ischaemic stroke, the potential risks of thrombolysis in such patients and the need to consider pulmonary arteriovenous malformations in patients with stroke.

Heart failure and pulmonary arteriovenous malformations in a patient with hereditary hemorrhagic telangiectasia type 2.

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominantly inherited vascular-malformation syndrome associated with gene mutations including ENG, ACVRL1 and SMAD4 gene. Clinically indistinguishable HHT1 and HHT2 are caused by mutations in ENG and ACVRL1 gene, respectively. Generally, pulmonary arteriovenous malformations (PAVMs) and pulmonary arterial hypertension (PAH) are rare manifestations of HHT related to ACVRL1 gene mutations. We described a female patient with HHT2 whose clinical features included epistaxis, mucocutaneous telangiectases, systemic AVMs and PAH. She also suffered from severe iron deficiency anemia and recurrent heart failure. A genetic mutation analysis disclosed a missense mutation in exon 7 of ACVRL1 gene in this patient and her daughter. A nonsense mutation in exon 7 of ACVRL1 gene was detected in her brother and her niece. This case supports that PAVMs and PAH can be rare manifestations of HHT2 patients.

Effectiveness of Embolization for Pulmonary Arteriovenous Malformations from Distal of the Last Normal Branch of the Pulmonary Artery.

Purpose: This retrospective study of patients with pulmonary arteriovenous malformations aims to assess the efficacy of embolization distal to the origin of the last normal branch of the pulmonary artery. Material and Methods: A total of 30 consecutive patients with 38 untreated pulmonary arteriovenous malformations underwent coil embolization distal to the origin of the last normal branch of the pulmonary artery between September 2015 and October 2021. The median (interquartile range) age of patients (5 males, 25 females) was 59 years (50-68 years old), and the median (interquartile range) sizes of the feeding artery and sac were 2.9 mm (2.3-3.8 mm) and 6.7 mm (5.4-9.7 mm), respectively. The technical success rate, persistence rate, and treatment-related complications were evaluated. Technical success was defined as the inability to identify the draining vein on feeding arteriography after coil embolization. Persistence was assessed using time-resolved magnetic resonance angiography. Results: Coil embolization was successful in all patients (100%). There was no persistence during a median (interquartile range) follow-up period of 23 months (10-45 months) for the 38 pulmonary arteriovenous malformations embolized with coils. No major complications were reported. Only minor complications following embolization occurred in 4 of 36 sessions, including local pain in 2 sessions (6%) and hemosputum in 2 sessions (6%). Conclusions: Embolization distal to the origin of the last normal branch of the pulmonary artery is effective in preventing the persistence of pulmonary arteriovenous malformations.

Diffuse pulmonary arteriovenous malformation presenting with secondary polycythemia and headaches: a case report.

BACKGROUND: Pulmonary arteriovenous malformations are a relatively uncommon medical condition, affecting roughly 1 in every 2500 individuals. Of those suffering from pulmonary arteriovenous malformations, 80% have an underlying genetic condition: hereditary hemorrhagic telangiectasia. CASE PRESENTATION: We present the case of a 20-year-old Pakistani male with a history of persistent slower-onset frontal headaches that increased in severity within the course of the day. His hemoglobin was 18 g/dl, indicating polycythemia, for which he had undergone seven venesections in a month previously. His physical examination was unremarkable. His computed tomography scan depicted multiple dilated tortuous vessels with branching linear opacities in the right lower lobe of the lungs. The multiple feeding arteries were supplied by the right main pulmonary artery, and the large draining veins led to the right inferior pulmonary vein. This was identified as a diffuse pulmonary arteriovenous malformation. He was recommended for a right pulmonary artery angiogram. It showed multiple tortuous vessels with a nidus and large draining veins-features of a diffuse arteriovenous malformation in the right lower lobe of the lung consistent with the computed tomography scan. Embolization of two of these vessels feeding the arteriovenous malformation was conducted, using Amplatzer Vascular plug 2, whereas multiple pushable coils (five coils) were used for embolizing the third feeding vessel. This achieved 70-80% successful embolization of right pulmonary AVM; however, some residual flow was still seen in the arteriovenous malformation given the complexity of the lesion. Immediately after, his oxygen saturation improved from 78% to 96%. CONCLUSION: Diffuse pulmonary arteriovenous malformations, as seen in this patient, are rare, accounting for less than 5% of total pulmonary arteriovenous malformations diagnosed. The patient presented with a complaint of progressive frontal headaches, which can be attributed to low oxygen saturation or the presence of a cerebral arteriovenous malformation. There was no history of hereditary hemorrhagic telangiectasia in the patient's family. Furthermore, although most patients with hereditary hemorrhagic telangiectasia and hence pulmonary arteriovenous malformation have complaints of iron-deficiency anemia, our patient in contrast was suffering from polycythemia. This can be explained as a compensatory mechanism in hypoxemic conditions. Moreover, the patient had no complaint of hemoptysis or epistaxis, giving a varied presentation in comparison with a typical pulmonary arteriovenous malformation.

Neurological and cardiopulmonary manifestations of pulmonary arteriovenous malformations.

Pulmonary arteriovenous malformations (PAVMs) are direct pulmonary artery-to-vein connections without pulmonary capillaries that result in intrapulmonary right-to-left blood shunts. Although most patients with PAVMs may be entirely asymptomatic, PAVMs can induce a series of complications involving the neurological, cardiovascular, and respiratory systems that can lead to catastrophic and often fatal clinical sequelae. In this study we review the available literature and summarize the reported PAVM-related complications among patients with PAVMs. The reviewed studies included observational studies, case studies, prospective studies, and cohort studies, and we provide an overview of PAVM-related neurological and cardiopulmonary manifestations, including stroke, cerebral abscess, transient ischemic attack, cerebral hemorrhage, migraine, seizure, dizziness, cardiac failure, arrhythmia, myocardial infarction, cough, hypoxemia, dyspnea, respiratory failure, hemoptysis, and hemothorax. Identifying and treating PAVMs before the presentation of major complication is important because this can prevent the occurrence of complications and can result in better outcomes. PAVM patients should thus be better evaluated and managed by a multidisciplinary team because they may be in a treatable phase prior to their condition becoming life-threatening.

Objective Quantification of Bilateral Bubble Contrast Echocardiography Correlates with Systemic Oxygenation in Patients with Single Ventricle Circulation.

Bubble contrast echocardiography is commonly used to diagnose pulmonary arteriovenous malformations (PAVMs) in single ventricle congenital heart disease (CHD), yet previous studies inconsistently report a correlation between bubble echoes and oxygenation. In this study, we sought to re-evaluate the correlation between bubble echoes and oxygenation by assessing total bilateral shunting and unilateral shunting. We conducted a single-center, retrospective study of patients with single ventricle CHD and previous Glenn palliation who underwent a cardiac catheterization and bubble echocardiogram during the same procedure from 2011 to 2020. Spearman's rank correlation was performed to examine the relationship between total bilateral shunting and measures of systemic oxygenation, as well as unilateral shunting and ipsilateral pulmonary vein oxygenation. For all patients (n = 72), total bilateral shunting moderately correlated with peripheral oxygen saturation (SpO2) (rs = -0.44, p < 0.0001). For patients with Glenn/Kawashima circulation (n = 49), total bilateral shunting was moderately correlated (SpO2: rs = -0.38, p < 0.01). In contrast, unilateral shunting did not correlate with ipsilateral pulmonary vein oxygenation for any vein measured (p = 0.16-p > 0.99). In conclusion, the total burden of bilateral bubble shunting correlated with systemic oxygenation and may better reflect the total PAVM burden from all lung segments. Unilateral correlation may be adversely influenced by non-standardized approaches to pulmonary vein sampling.

An unusual approach for platypnea-orthodeoxia syndrome due to isolated pulmonary arteriovenous malformations.

A 27-year-old man presented to the emergency department with complaints of syncope, dyspnea, and fatigue. Physical examination revealed left-sided mild hemiparesis, platypnea, and continuous murmur on right middle lobe lung auscultation.