Clinical and genetic findings in children with central nervous system arteriovenous fistulas

Saliou, Guillaume; Eyries, Mélanie; Iacobucci, Marta; Knebel, Jean-François; Waill, Marie-Christine; Coulet, Florence; Ozanne, Augustin; Soubrier, Florent

doi:10.1002/ana.25106

Cited by 31 publications

(14 citation statements)

References 41 publications

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“…In patients with documented AVFs, recent data suggest that ≈9% will harbor known mutations. [455][456][457] RASA-1-and HHT-related mutations (ENG and ACVRL1) were most common, with clinical findings including multiple cranial lesions, spinal AVF/AVM, hypercoagulable states, and capillary hemangioma (in RASA-1). 430,455,456,457 Treatment.…”

Section: Genetic Screeningmentioning

confidence: 99%

Management of Stroke in Neonates and Children: A Scientific Statement From the American Heart Association/American Stroke Association

Ferriero¹,

Fullerton²,

Bernard³

et al. 2019

Stroke

526

515

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Purpose-Much has transpired since the last scientific statement on pediatric stroke was published 10 years ago. Although stroke has long been recognized as an adult health problem causing substantial morbidity and mortality, it is also an important cause of acquired brain injury in young patients, occurring most commonly in the neonate and throughout childhood. This scientific statement represents a synthesis of data and a consensus of the leading experts in childhood cardiovascular disease and stroke. Methods-Members of the writing group were appointed by the American Heart Association Stroke Council's Scientific Statement Oversight Committee and the American Heart Association's Manuscript Oversight Committee and were chosen to reflect the expertise of the subject matter. The writers used systematic literature reviews, references to published clinical and epidemiology studies, morbidity and mortality reports, clinical and public health guidelines, authoritative statements, personal files, and expert opinion to summarize existing evidence and to indicate gaps in current knowledge. This scientific statement is based on expert consensus considerations for clinical practice. Results-Annualized pediatric stroke incidence rates, including both neonatal and later childhood stroke and both ischemic and hemorrhagic stroke, range from 3 to 25 per 100 000 children in developed countries. Newborns have the highest risk ratio: 1 in 4000 live births. Stroke is a clinical syndrome. Delays in diagnosis are common in both perinatal and childhood stroke but for different reasons. To develop new strategies for prevention and treatment, disease processes and risk factors that lead to pediatric stroke are discussed here to aid the clinician in rapid diagnosis and treatment. The many important differences that affect the pathophysiology and treatment of childhood stroke are discussed in each section. Conclusions-Here we provide updates on perinatal and childhood stroke with a focus on the subtypes, including arterial ischemic, venous thrombotic, and hemorrhagic stroke, and updates in regard to areas of childhood stroke that have not received close attention such as sickle cell disease. Each section is highlighted with considerations for clinical practice, attendant controversies, and knowledge gaps. This statement provides the practicing provider with much-needed updated information in this field. (Stroke. 2019;50:e00-e00.

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Section: Genetic Screeningmentioning

confidence: 99%

Management of Stroke in Neonates and Children: A Scientific Statement From the American Heart Association/American Stroke Association

Ferriero¹,

Fullerton²,

Bernard³

et al. 2019

Stroke

526

515

View full text Add to dashboard Cite

show abstract

“…88 Additional recent studies demonstrated autosomal dominant EPHB4 mutations, named CM-AVM2. 89 This gene encodes a trans-membrane receptor expressed primarily in venous ECs during vascular development interacting with its ligand, EphrinB2, on arterial ECs. EPHB4 also activates p120-RasGAP, and therefore exerts similar downstream effects on the MEK/ERK pathway as RASA1.…”

Section: Signaling Pathwaysmentioning

confidence: 99%

Pathogenesis of non-hereditary brain arteriovenous malformation and therapeutic implications

Ota

Komiyama

2020

Interv Neuroradiol

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Brain arteriovenous malformations have a high risk of intracranial hemorrhage, which is a substantial cause of morbidity and mortality in patients with brain arteriovenous malformations. Although a variety of genetic factors leading to hereditary brain arteriovenous malformations have been extensively investigated, their pathogenesis is still not well elucidated, especially in sporadic brain arteriovenous malformations. The authors have reviewed the updated data of not only the genetic aspects of sporadic brain arteriovenous malformations, but also the architecture of microvasculature, the roles of the angiogenic factors, and the signaling pathways. This knowledge may allow us to infer the pathogenesis of sporadic brain arteriovenous malformations and develop pre-emptive treatments for them.

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“…Congenital pial AVFs have been linked to various congenital diseases, the commonest of which is hemorrhagic hereditary telangiectasia which co-presents with AVFs in one-quarter of patients ( 41 ). Recent data suggest that ≈9% of patients with AVFs will harbor known mutations ( 41 – 43 ). RASA-1– and HHT-related mutations (ENG and ACVRL1) were most commonly associated with clinical phenotypes including cranial lesions, hypercoagulable state, spinal AVF/AVM, capillary hemangioma (in RASA-1) ( 15 , 41 – 43 ).…”

Section: Section 2: Arteriovenous Fistulas (Avfs)mentioning

confidence: 99%

Hemorrhagic Cerebrovascular Pathology in the Pediatric Population

Guerrero

Dandapat

2020

Front. Neurol.

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Hemorrhagic cerebrovascular disease in the pediatric population can have devastating and long-term effects. Progress in the fields of genetics, neuroimaging, pharmacology, and surgical techniques has led to improved diagnosis and management of pediatric cerebrovascular diseases. In this review we discuss the current etiologies and medical and surgical treatments of hemorrhagic cerebrovascular pathology affecting infants and children. A special emphasis is placed on neuroendovascular treatment options. Increased knowledge about this unique pathology and the medical and therapeutic options will empower practitioners to more quickly and accurately identify and accurately treat hemorrhagic diseases in the pediatric population.

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Clinical and genetic findings in children with central nervous system arteriovenous fistulas

Abstract: These results highlight the importance of genetic testing in this setting in view of the high frequency of gene mutations in pediatric cerebrospinal AVFs, and show the predominance of RASA1 over HHT mutations. Ann Neurol 2017;82:972-980.

Cited by 31 publications

References 41 publications

Management of Stroke in Neonates and Children: A Scientific Statement From the American Heart Association/American Stroke Association

Management of Stroke in Neonates and Children: A Scientific Statement From the American Heart Association/American Stroke Association

Pathogenesis of non-hereditary brain arteriovenous malformation and therapeutic implications

Hemorrhagic Cerebrovascular Pathology in the Pediatric Population

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