BACKGROUND AND PURPOSE Hereditary hemorrhagic telangiectasia is an autosomal dominant disease that presents in 10%-20% of patients with various brain vascular malformations. We aimed to report the radiologic features (phenotype) and the genotype-phenotype correlations of brain vascular malformations in hereditary hemorrhagic telangiectasia. MATERIALS AND METHODS Demographic, clinical, genotyp...

BACKGROUND Vascular malformations are clinical disorders in which endothelial cells fail to remodel and/or undergo programmed cell death, leading to abnormal persistence of blood vessels. The abnormal persistence of vessels makes therapy difficult because these lesions are resistant to interventions that are effective against hemangiomas. Akt1 is a serine-threonine protein kinase, which is a ke...

The roles of the Notch pathway proteins in normal adult vascular physiology and the pathogenesis of brain arteriovenous malformations are not well-understood. Notch 1 and 4 have been detected in human and mutant mice vascular malformations respectively. Although mutations in the human Notch 3 gene caused a genetic form of vascular stroke and dementia, its role in arteriovenous malformations dev...

infantile haemangiomas (ih) are the most common vascular tumors occurring in early childhood, with a prevalence of approximately 5-10% of infants. these vascular tumors are divided into two main groups including infantile haemangioma and vascular malformations. although, haemangioma of infancy are common, benign and self-limited tumors, a significant percent of these lesions are associated with...

Vascular anomalies are a heterogeneous group of congenital blood vessel disorders more typically referred to as birthmarks. Subcategorized into vascular tumors and malformations, each anomaly is characterized by specific morphology, pathophysiology, clinical behavior, and management approach. Hemangiomas are the most common vascular tumor. Lymphatic, capillary, venous, and arteriovenous malform...

hemangiomas are considered as vascular malformations which are categorized by the type of vascular channel to capillary, cavernous, venous or arteriovenous(1). their usual locations are soft tissue , cutaneous or subcutaneous tissue and bone especially vertebra(2).however, intradural extramedullary hemangiomas are rare and most of them fall in cavernous type category. hereby, authors report a w...

Vascular malformations are a disruption of the normal vascular pattern in which it is expected that a capillary network of microscopic vessels lies interposed between high-pressure arteries that deliver blood and thin-walled veins that collect low-pressure blood for return to the heart. In the case of arteriovenous malformations, arteries or arterioles connect directly to the venous collection ...

Abstract According to the International Society for Study of Vascular Anomalies (ISSVA) classification, vascular anomalies include a diverse range pathologies, classified as either tumors or malformations. This last revised in 2018, aims explain biological basis lesions and help clinicians manage anomalies. In tumors, there are proliferative changes endothelial cells, while malformations primar...

Hereditary haemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder, characterised by the presence of vascular malformations. The pulmonary vascular complications of HHT include pulmonary arteriovenous malformations, pulmonary hypertension associated with high-output heart failure and liver vascular malformations and, finally, pulmonary arterial hypertension secondary to HHT. In ...

Spinal vascular malformations (SVM) are rare diseases in comparison to vascular malforma‐ tions of the brain. Spinal dural arteriovenous fistulas (SDAVFs), also known as Type I spinal arteriovenous malformations, account for 70% of spinal vascular malformations, and are the most common vascular malformations of the spinal cord and its surrounding dura mater; however, they remain relatively unde...