-
CNS Neuroscience & Therapeutics Oct 2019Patients with brain arteriovenous malformation (bAVM) are at risk of intracranial hemorrhage (ICH). Overall, bAVM accounts for 25% of hemorrhagic strokes in adults... (Review)
Review
Patients with brain arteriovenous malformation (bAVM) are at risk of intracranial hemorrhage (ICH). Overall, bAVM accounts for 25% of hemorrhagic strokes in adults <50 years of age. The treatment of unruptured bAVMs has become controversial, because the natural history of these patients may be less morbid than invasive therapies. Available treatments include observation, surgical resection, endovascular embolization, stereotactic radiosurgery, or combination thereof. Knowing the risk factors for bAVM hemorrhage is crucial for selecting appropriate therapeutic strategies. In this review, we discussed several biological risk factors, which may contribute to bAVM hemorrhage.
Topics: Arteriovenous Fistula; Blood-Brain Barrier; Embolization, Therapeutic; Humans; Intracranial Arteriovenous Malformations; Intracranial Hemorrhages; Radiosurgery; Risk Factors; Vascular Endothelial Growth Factor A
PubMed: 31359618
DOI: 10.1111/cns.13200 -
Jornal Brasileiro de Pneumologia :... Mar 2024
Topics: Humans; Arteriovenous Malformations; Embolization, Therapeutic
PubMed: 38536987
DOI: 10.36416/1806-3756/e20240023 -
Chest May 2023Pulmonary arteriovenous malformations (PAVMs) are rare and most often identified in patients with hereditary hemorrhagic telangiectasia (HHT). We describe a patient with...
Pulmonary arteriovenous malformations (PAVMs) are rare and most often identified in patients with hereditary hemorrhagic telangiectasia (HHT). We describe a patient with severe hypoxemia and orthodeoxia with imaging findings consistent with PAVMs. Resected lung pathologic findings confirmed the presence of numerous microscopic vascular abnormalities within the right lower lobe that was consistent with diffuse pulmonary arteriovenous shunts. Family history was negative for HHT but was positive for pulmonary arterial hypertension (PAH) in two second-degree relatives. A vascular malformation gene panel was negative for genes that commonly are associated with HHT but identified a pathogenic variant in the gene encoding bone morphogenetic protein receptor-2 (BMPR2 p.Cys123∗). Pathogenic variants in BMPR2 are a well-known cause of hereditary PAH; there have been several reports to date of patients with PAVMs and PAH. However, this is the first patient to be reported with a pathogenic variant in BMPR2 to have PAVMs in isolation.
Topics: Humans; Arteriovenous Malformations; Telangiectasia, Hereditary Hemorrhagic; Lung; Arteriovenous Fistula; Pulmonary Veins; Pulmonary Artery; Familial Primary Pulmonary Hypertension; Pulmonary Arterial Hypertension
PubMed: 37164583
DOI: 10.1016/j.chest.2023.01.020 -
Ginekologia Polska 2018Uterine arteriovenous malformations are uncommon but potentially life-threatening conditions. They can be congenital or acquired and should be suspected in cases of... (Review)
Review
Uterine arteriovenous malformations are uncommon but potentially life-threatening conditions. They can be congenital or acquired and should be suspected in cases of severe or persistent uterine bleeding. In recent years, there has been an in-creasing number of reports of acquired vascular lesions of the uterus following pregnancy, abortion, caesarean delivery and curettage. This paper presents the review of the literature considered epidemiology, pathophysiology, diagnostic methods and treatment options. Unexplained uterine bleeding should be always an indication for colour Doppler ultrasonography and the presence of arteriovenous malformation should be always excluded.
Topics: Arteriovenous Malformations; Female; Humans; Uterine Artery; Uterine Hemorrhage; Uterus
PubMed: 30084480
DOI: 10.5603/GP.a2018.0047 -
The Journal of Thoracic and... Apr 2019
Topics: Arteriovenous Malformations; Coronary Sinus; Coronary Vessel Anomalies; Female; Humans; Middle Aged; Treatment Outcome
PubMed: 30447964
DOI: 10.1016/j.jtcvs.2018.09.111 -
Genes Feb 2023Pathogenic variants in are typically associated with a clinical condition called "capillary malformation-arteriovenous malformation" (CM-AVM) syndrome, an autosomal...
Pathogenic variants in are typically associated with a clinical condition called "capillary malformation-arteriovenous malformation" (CM-AVM) syndrome, an autosomal dominant genetic disease characterized by a broad phenotypic variability, even within families. In CM-AVM syndrome, multifocal capillary and arteriovenous malformations are mainly localized in the central nervous system, spine and skin. Although CM-AVM syndrome has been widely described in the literature, only 21 cases with prenatal onset of clinical features have been reported thus far. Here, we report four pediatric cases of molecularly confirmed CM-AVM syndrome which manifested during the prenatal period. Polyhydramnios, non-immune hydrops fetalis and chylothorax are only a few possible aspects of this condition, but a correct interpretation of these prenatal signs is essential due to the possible fatal consequences of unrecognized encephalic and thoracoabdominal deep vascular malformations in newborns and in family members carrying the same variant.
Topics: Female; Humans; Infant, Newborn; Child; Pregnancy; Mutation; p120 GTPase Activating Protein; Port-Wine Stain; Arteriovenous Malformations; GTPase-Activating Proteins
PubMed: 36980822
DOI: 10.3390/genes14030549 -
Acta Dermato-venereologica Mar 2022Capillary malformation-arteriovenous malformation syndrome is a rare genodermatosis with cutaneous capillary malformations and a risk of associated fast-flow... (Review)
Review
Capillary malformation-arteriovenous malformation syndrome is a rare genodermatosis with cutaneous capillary malformations and a risk of associated fast-flow malformations. We describe here a four-generation family with a novel heterozygous pathogenic variant in the EPHB4 gene (NM_004444.5 (EPHB4): c.2224G>C, p.(Ala742Pro)). A review of the literature retrieved 127 patients with capillary malformation-arteriovenous malformation syndrome and confirmed variants in EPHB4. Multiple capillary malformations were present in 114 (89.76%) patients, and 12 (9.44%) patients had a solitary capillary malformation. Arteriovenous malformations/fistulas were present in 23 (18.1%) patients, and were located within the central nervous system in 5 (3.9%) patients. Not all papers included description of epistaxis. Telangiectasias were reported in 28 (22%) patients, and Bier spots were described in 20 (15.7%) patients. The clinical characteristics of capillary malformation-arteriovenous malformation syndrome are diverse and often discrete, which can make it difficult to distinguish capillary malformation-arteriovenous malformation syndrome from hereditary haemorrhagic telangiectasia.
Topics: Arteriovenous Malformations; Capillaries; Humans; Port-Wine Stain; p120 GTPase Activating Protein
PubMed: 35088870
DOI: 10.2340/actadv.v102.1126 -
Medicina (Kaunas, Lithuania) Nov 2021Renal arteriovenous malformation (AVM) is a rare disease and is difficult to be diagnosed by conventional methods because of its rarity. In this study, we investigated...
Renal arteriovenous malformation (AVM) is a rare disease and is difficult to be diagnosed by conventional methods because of its rarity. In this study, we investigated the diagnostic clues, and made an algorithm for the better diagnosis of renal AVM. We reviewed 13 patients who were diagnosed with AVM by using renal angiography from 1986 to 2020 at our institutes. We evaluated clinical features, diagnostic tools, treatment modalities, and outcomes after the treatment of patients. All patients were female, and the mean age was 36.9 years (range 19 to 54 years). Twelve (92.3%) patients complained of gross hematuria. Four (30.8%) patients showed symptoms in relation with pregnancy and delivery. Angiographic findings demonstrated cirsoid type in 10 patients and aneurysmal type in 3 patients. Among the 11 patients who underwent computed tomography, AVMs were detected in 3 (27.3%) patients. Renal duplex Doppler was performed in 6 patients, and all of these patients were diagnosed with AVM, demonstrating a vascular turbulence or blood-rich area. Twelve patients were initially treated with transarterial embolization. Nephrectomy was performed in two patients due to persistent bleeding with hypovolemic shock. We should consider possible AVMs in patients who were not detected by conventional work up for hematuria, especially in mid-aged, pregnant, or recently delivered women. Renal duplex Doppler might be the optimal diagnostic modality in these patients. Our diagnostic algorithm could be aid to diagnosis and treatment for renal AVM patients.
Topics: Adult; Arteriovenous Malformations; Embolization, Therapeutic; Female; Hematuria; Humans; Kidney; Middle Aged; Renal Artery; Treatment Outcome; Young Adult
PubMed: 34946250
DOI: 10.3390/medicina57121304 -
Sultan Qaboos University Medical Journal May 2019
Topics: Adult; Arteriovenous Fistula; Arteriovenous Malformations; Granuloma, Pyogenic; Humans; India; Male
PubMed: 31538020
DOI: 10.18295/squmj.2019.19.02.017 -
CNS Oncology Dec 2020We report the third presentation of an intermixed arteriovenous malformation and hemangioblastoma. The rare occurrence of the diagnostic histologic features of both a... (Review)
Review
We report the third presentation of an intermixed arteriovenous malformation and hemangioblastoma. The rare occurrence of the diagnostic histologic features of both a neoplasm and vascular malformation in a single lesion is more common in gliomas, as angioglioma, and is termed an 'intermixed' lesion. We review the literature concerning the developmental biology of each lesion, and potential interplay in the formation of an intermixed vascular neoplasm and vascular malformation. The roles of cellular origin, genetic susceptibility, favourable microenvironment, altered local gene expression and key regulatory pathways are reviewed. Our review supports angiography and genetic profiling in intermixed lesions to inform management strategies. Consideration should be given to multimodality therapeutic interventions as required, including microsurgical resection, stereotactic radiosurgery and further research to exploit emerging molecular targets.
Topics: Arteriovenous Malformations; Cerebellar Neoplasms; Hemangioblastoma; Humans; Male; Middle Aged
PubMed: 33244995
DOI: 10.2217/cns-2020-0021