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INTRODUCTION: Congenital pulmonary airway malformation (CPAM) is a congenital condition rarely detected in adults because most cases of CPAM are found through prenatal testing or through testing for recurrent pneumonia or lung abscesses in childhood. Pulmonary arteriovenous malformation (PAVM) is an abnormal vascular connection between the pulmonary arteries and veins, which is often related to hereditary hemorrhagic telangiectasia, but can also be induced by infections, trauma, or thoracic surgery. Herein, we report an adult case of coexisting CPAM and PAVM.CASE PRESENTATION: The patient was a 26-year-old woman. A medical checkup chest X-ray showed abnormalities. The patient had no past medical history, including of bleeding tendency or repeated pneumonia, and no familial history of CPAM and PAVM. A chest CT revealed multiple lung cysts (maximum diameter of 40 mm) in the left lower lobe of the lung, and congenital pulmonary cysts were suspected. The chest CT also showed two PAVMs (vessel diameters of 6 mm and 4 mm) in the same left lower lobe. Serum tests were positive for Aspergillus-specific antibodies and β-D-glucan, and pulmonary aspergillosis was diagnosed. An antifungal agent (itraconazole) was administered. However, consolidations had developed 9 months after, and the antifungal agent was changed to voriconazole. Then, the consolidations diminished slightly but nevertheless remained, and one of the PAVMs increased in diameter from 6 mm to 10 mm. A left lower lobectomy under thoracoscopy was performed owing to the uncontrolled infection and the risk of complications with PAVMs. The pathological diagnosis of the pulmonary cysts was CPAM type 1. The patient had no symptoms or complications after the surgery.CONCLUSIONS: Cases of CPAM with PAVM are rare, especially in adults. CPAM often leads to pulmonary infection, and the pulmonary infection is known to be one of the causes of PAVM. In our case, Aspergillus might have infected the pulmonary cysts and affected the enlargement of the vascular diameter of PAVM. If CPAM and PAVM are present simultaneously, surgical treatment should be considered to prevent complications associated with CPAM and PAVM.

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterised by vascular malformations in multiple organ systems, resulting in mucocutaneous telangiectases and arteriovenous malformations predominantly in the lungs (pulmonary arteriovenous malformation; PAVM), brain (cerebral arteriovenous malformation; CAVM), and liver (hepatic arteriovenous malformation; HAVM). Mutations in the ENG and ALK-1 genes lead to HHT1 and HHT2 respectively. In this study, a genotype-phenotype analysis was performed. A uniform and well classified large group of HHT patients and their family members were screened for HHT manifestations. Groups of patients with a clinically confirmed diagnosis and/or genetically established diagnosis (HHT1 or HHT2) were compared. The frequency of PAVM, CAVM, HAVM, and gastrointestinal telangiectases were determined to establish the genotype-phenotype relationship. The analysis revealed differences between HHT1 and HHT2 and within HHT1 and HHT2 between men and women. PAVMs and CAVMs occur more often in HHT1, whereas HAVMs are more frequent in HHT2. Furthermore, there is a higher prevalence of PAVM in women compared with men in HHT1. In HHT1 and HHT2, there is a higher frequency of HAVM in women. HHT1 has a distinct, more severe phenotype than HHT2. There is a difference in the presence of symptoms between men and women. With these data, genetic counselling can be given more accurately when the family mutation is known.

Background Pulmonary arteriovenous malformations (PAVMs) are abnormal communications between pulmonary arteries and veins that bypass the normal pulmonary capillary bed. They are most commonly associated with hereditary hemorrhagic telangiectasia (HHT), while idiopathic cases are rare. PAVMs usually occur in the lower lobes and are more frequent in females, particularly during pregnancy. Although often clinically silent, they can present with dyspnea, hypoxemia, and cyanosis. This case is reported due to its rarity and as, to the best of our knowledge, the first documented surgically resected left lingular PAVM reported in Syria. Case presentation A 22-year-old Syrian female, nulligravid, presented with unexplained dyspnea persisting for one year. Contrast-enhanced multidetector computed tomography (MDCT) of the chest revealed a PAVM in the left lingula, which was confirmed by histopathology. While endovascular embolization is the preferred treatment for PAVMs, the patient underwent complete surgical resection of the lingula. Postoperatively, vital signs and symptoms improved rapidly, and the procedure achieved a favorable outcome. Conclusions This case highlights that PAVMs, although rare and often asymptomatic, can cause chronic dyspnea and may require surgical intervention when indicated. Reporting such cases contributes to clinical knowledge and awareness of management strategies in settings where endovascular treatment may not be feasible.

Pulmonary arteriovenous malformations （AVM） lung is defined by an abnormal communication between pulmonary artery（ies） and vein（s） responsible for a right-left shunt. Congenital forms are most common and usually associated with Rendu-Osler disease （ROD）. Inversely, 15-45% of patients with ROD present lung AVM Nowadays, embolization is preferred to surgical resection in the majority of cases. Except for certain cases where surgery is indicated. This paper shows the role of surgery in AVMs.

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-β 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.

The objective is to differentiate between patent foramen ovale (PFO) and pulmonary arteriovenous malformations (PAVM) using simultaneous contrast transthoracic echocardiography (cTTE) and contrast transcranial cerebral Doppler (cTCD). A total of 193 patients suspected of having a right-to-left shunt were classified into four groups based on the reference standard, including PFO ( n  = 102), PAVM ( n  = 18), negative subjects ( n  = 53), and indeterminate group ( n  = 20). Simultaneous cTTE and cTCD were performed in all patients. The comparison between PFO and PAVM was as follows: (1) The cut-off for cardiac cycles was set at ≤ 3 for PFO and ≥ 4 for PAVM. (2) Regarding the quantity of left atrial (LA) bubbles at rest, less than 30 bubbles were observed in 76.4% of patients with PFO, while more than 30 bubbles were found in 94.4% of patients with PAVM. (3) The cut-off of incremental bubbles during modified Valsalva were set at ≥ 10 bubbles for PFO and ≤ 1 bubble for PAVM. (4) The percentages of observed bubbles crossing either interatrial septum or pulmonary vein were 11.8% and 72.2% in the PFO and PAVM groups, respectively. In PFO group, the simultaneous use of cTTE and cTCD demonstrated a high area under the curve (AUC) of 0.973 using incremental bubbles. The successful application of cTCD-guide Valsalva maneuver resulted in a higher quantity of LA bubbles observed in cTTE findings. Simultaneous use of cTTE and cTCD enables differential diagnosis between PFO and PAVM. Moreover, the use of cTCD-guide Valsalva maneuver is recommended for PFO diagnosis.

Embolisation is a widely utilised therapeutic intervention for pulmonary arteriovenous malformation (PAVM). We conducted a meta-analysis to evaluate outcomes of PAVM embolisation and factors associated with embolisation outcomes. MEDLINE, EMBASE and Cochrane Central Register of Controlled Trials (CENTRAL) were searched from 2000 to July 2022 on studies that assessed embolisation outcomes of PAVM. Immediate technical success rate defined as the complete occlusion of the PAVM at the time of embolisation and treatment success rate defined as ≥ 70% venous sac reduction on follow-up imaging were pooled from included studies with use of random effects proportion meta-analysis. Heterogeneity across studies was assessed with the I statistic. Forty-four studies including 1865 patients (604 (32%) males, mean age (range) 45 (24-59) years, 1125 (60%) had hereditary haemorrhagic telangiectasia (HHT)) were included in the meta-analysis. Studies included a total of 4314 PAVMs of which 4047 (94%) were treated. Studies reported morphology of 3074 PAVMs (2519 (58%) simple and 555 (13%) complex). The pooled overall immediate technical success rate for PAVM embolisation was 99%, 95% CI (98-100%) and the treatment success rate was 86%, 95% CI (84-89%). Younger age (p = 0.041), simple PAVM (0.020), and embolisation using plugs (p = 0.001) were associated with higher treatment success. Feeding artery and sac embolisation (p = 0.021) and using coils (p = 0.001) were associated with lower treatment success. There was no significant difference in recanalisation rate between different embolisation agents (OR 0.64, 95% CI -0.09- 1.38). This meta-analysis shows that PAVM embolisation is safe and effective. Higher treatment success rates for PAVM embolisation can be achieved using plugs as the primary embolisation agent. Embolisation agent used had no effect on recanalisation rates.

Hereditary haemorrhagic telangiectasia (HHT) is a multisystemic vascular dysplasia that leads to nosebleeds, anaemia due to blood loss, and arteriovenous malformations (AVMs) in organs such as the lungs, liver and brain. HHT is estimated to affect 85,000 European citizens, but most health care providers have limited prior HHT exposure or training. Outcome Measures were developed and implemented by the HHT Working Group of the European Reference Network for Rare Vascular Diseases (VASCERN), in order to maximise the number of patients receiving good care. The measures specifically target areas where optimal management reduces morbidity and mortality in HHT patients, and were designed to be robust to emerging new evidence. Thresholds are the percentage of patients in particular settings who have been recommended screening, or provided with written advice. The 5 Outcome Measures cover (1) pulmonary AVM screening; (2) written nosebleed advice, (3) assessment of iron deficiency; (4) antibiotic prophylaxis prior to dental and surgical procedures for patients with pulmonary AVMs, and (5) written advice on pregnancy. They are not a blueprint for detailed HHT management, but are suitable for all clinicians to be aware of and implement. In summary, these 5 Outcome Measures provide metrics to identify healthcare providers of good care, and encourage care improvement by all healthcare providers.

Background Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant disease with high penetrance characterized by arteriovenous malformations (AVMs) in multiple organs and telangiectasia in the mucocutaneous. Neonatal presentations of HHT are rare, as this disorder typically presents in adolescence or beyond with epistaxis.  Case presentation A male newborn was found to have hypoxemia, but screening for common causes was negative. His cerebrovascular malformations, including cerebral arteriovenous malformation (CVMs) and arteriovenous fistula (AVF), were discovered at 8 months of age. He showed no neurological symptoms after two embolization treatments, although hypoxemia of unknown origin persisted. At 29 months of age, transthoracic contrast echocardiography (TTCE) confirmed an intrapulmonary right-to-left shunt. Subsequent genetic testing revealed a de novo mutation in the ENG gene, confirming the diagnosis of HHT. However, his concurrent computerized tomography (CT) angiography unrevealed the size and location of the pulmonary arteriovenous malformation (PAVMs), which make embolization unfeasible. Therefore, the current management plan is limited to observation and follow-up. Conclusions This patient highlights the importance of conducting comprehensive early screening for potential causes of hypoxemia in newborns or infants. Although rare, HHT with PAVMs remain a significant etiology of hypoxemia.

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 Curacao 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.