Scimone C, Donato L, Marino S, Alafaci C, D’Angelo R, Sidoti A. Vis-a-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis. Neurol Sci. 2019;40:243–51.

PubMed  Article  Google Scholar 

Venugopal V, Sumi S. Molecular biomarkers and drug targets in brain arteriovenous and cavernous malformations: where are we? Stroke. 2022;53:279–89.

PubMed  Article  Google Scholar 

Zafar A, Fiani B, Hadi H, Arshad M, Cathel A, Naeem M, et al. Cerebral vascular malformations and their imaging modalities. Neurol Sci. 2020;41:2407–21.

PubMed  Article  Google Scholar 

Whitehead KJ, Smith MC, Li DY. Arteriovenous malformations and other vascular malformation syndromes. Cold Spring Harb Perspect Med. 2013;3:a006635.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Solomon RA, Connolly ES Jr. Arteriovenous malformations of the brain. N. Engl J Med. 2017;376:1859–66.

PubMed  Article  Google Scholar 

Gao S, Nelson J, Weinsheimer S, Winkler EA, Rutledge C, Abla AA, et al. Somatic mosaicism in the MAPK pathway in sporadic brain arteriovenous malformation and association with phenotype. J Neurosurg. 2022;136:148–55.

CAS  PubMed  Article  Google Scholar 

Gross BA, Du R. Natural history of cerebral arteriovenous malformations: a meta-analysis. J Neurosurg. 2013;118:437–43.

PubMed  Article  Google Scholar 

Al-Shahi Salman R. A systematic review of the frequency and prognosis of arteriovenous malformations of the brain in adults. Brain. 2001;124:1900–26.

Article  Google Scholar 

Derdeyn CP, Zipfel GJ, Albuquerque FC, Cooke DL, Feldmann E, Sheehan JP, et al. Management of brain arteriovenous malformations: a scientific statement for healthcare professionals from the American Heart Association/American Stroke Association. Stroke. 2017;48:e200–e24.

PubMed  Google Scholar 

McDonald J, Wooderchak-Donahue W, VanSant Webb C, Whitehead K, Stevenson DA, Bayrak-Toydemir P. Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Front Genet. 2015;6:1.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Guttmacher AE. Hereditary hemorrhagic telangiectasia. N. Engl J Med. 1995;333:918–24.

CAS  PubMed  Article  Google Scholar 

Snodgrass RO, Chico TJA, Arthur HM. Hereditary haemorrhagic telangiectasia, an inherited vascular disorder in need of improved evidence-based pharmaceutical interventions. Genes (Basel). 2021;12:174.

CAS  Article  Google Scholar 

Nishida T, Faughnan ME, Krings T, Chakinala M, Gossage JR, Young WL, et al. Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations. Am J Med Genet A. 2012;158A:2829–34.

PubMed  Article  CAS  Google Scholar 

Lam S, Guthrie KS, Latif MA, Weiss CR. Genetic counseling and testing for hereditary hemorrhagic telangiectasia. Clin Genet. 2022;101:275–84.

CAS  PubMed  Article  Google Scholar 

Richards-Yutz J, Grant K, Chao EC, Walther SE, Ganguly A. Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. Hum Genet. 2010;128:61–77.

CAS  PubMed  Article  Google Scholar 

Brinjikji W, Iyer VN, Wood CP, Lanzino G. Prevalence and characteristics of brain arteriovenous malformations in hereditary hemorrhagic telangiectasia: a systematic review and meta-analysis. J Neurosurg. 2017;127:302–10.

PubMed  Article  Google Scholar 

Villa D, Cinnante C, Valcamonica G, Manenti G, Lanfranconi S, Colombi A, et al. Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG. BMC Neurol. 2020;20:316.

PubMed  PubMed Central  Article  Google Scholar 

Palagallo GJ, McWilliams SR, Sekarski LA, Sharma A, Goyal MS, White AJ. The prevalence of malformations of cortical development in a pediatric hereditary hemorrhagic telangiectasia population. AJNR Am J Neuroradiol. 2017;38:383–86.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Klostranec JM, Chen L, Mathur S, McDonald J, Faughnan ME, Ratjen F, et al. A theory for polymicrogyria and brain arteriovenous malformations in HHT. Neurology. 2019;92:34–42.

PubMed  PubMed Central  Article  Google Scholar 

Govani FS, Shovlin CL. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Eur J Hum Genet. 2009;17:860–71.

CAS  PubMed  PubMed Central  Article  Google Scholar 

AAssar OS, Friedman CM, White RI Jr. The natural history of epistaxis in hereditary hemorrhagic telangiectasia. Laryngoscope. 1991;101:977–80.

Berg J, Porteous M, Reinhardt D, Gallione C, Holloway S, Umasunthar T, et al. Hereditary haemorrhagic telangiectasia a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. J Med Genet. 2003;40:585–90.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Morgan T, McDonald J, Anderson C, Ismail M, Miller F, Mao R, et al. Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu Syndrome). Pediatrics. 2002;109:E12.

PubMed  Article  Google Scholar 

McDonald J, Bayrak-Toydemir P, Pyeritz RE. Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Genet Med. 2011;13:607–16.

PubMed  Article  Google Scholar 

McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, et al. Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet. 1994;8:345–51.

CAS  PubMed  Article  Google Scholar 

Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, et al. Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet. 1996;13:189–95.

CAS  PubMed  Article  Google Scholar 

Gallione CJ, Repetto GM, Legius E, Rustgi AK, Schelley SL, Tejpar S, et al. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet. 2004;363:852–59.

CAS  PubMed  Article  Google Scholar 

Bayrak-Toydemir P, McDonald J, Markewitz B, Lewin S, Miller F, Chou LS, et al. Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. Am J Med Genet A. 2006;140:463–70.

PubMed  Article  Google Scholar 

Bernabeu C, Bayrak-Toydemir P, McDonald J, Letarte M. Potential second-hits in hereditary hemorrhagic telangiectasia. J Clin Med. 2020;9:3571.

CAS  PubMed Central  Article  Google Scholar 

Sánchez-Martínez R, Iriarte A, María Mora-Luján J, Luis Patier J, López-Wolf D, Ojeda. A. Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry. Orphanet J Rare Dis. 2020;15:138.

PubMed  PubMed Central  Article  Google Scholar 

McDonald J, Damjanovich K, Millson A, Wooderchak W, Chibuk JM, Stevenson DA, et al. Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis. Clin Genet. 2011;79:335–44.

CAS  PubMed  Article  Google Scholar 

Damjanovich K. 5’UTR mutations of ENG cause hereditary hemorrhagic telangiectasia. Orphanet J Rare Dis. 2011;6:85.

PubMed  PubMed Central  Article  Google Scholar 

Albiñana V, Zafra MP, Colau J, Zarrabeitia R, Recio-Poveda L, Olavarrieta L, et al. Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1. BMC Med Genet. 2017;18:20.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Wooderchak-Donahue W. Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia. J Med Genet. 2018;55:824–30.

CAS  PubMed  Article  Google Scholar 

Lesca G, Plauchu H, Coulet F, Lefebvre S, Plessis G, Odent S, et al. Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. Hum Mutat. 2004;23:289–99.

CAS  PubMed  Article  Google Scholar 

Abdalla SA, Letarte M. Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. J Med Genet. 2006;43:97–110.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Gedge F, McDonald J, Phansalkar A, Chou LS, Calderon F, Mao R, et al. Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations. J Mol Diagn. 2007;9:258–65.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Best DH, Vaughn C, McDonald J, Damjanovich K, Runo JR, Chibuk JM, et al. Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients. J Med Genet. 2011;48:358–60.

CAS  PubMed  Article  Google Scholar 

Clarke JM, Alikian M, Xiao S, Kasperaviciute D, Thomas E, Turbin I, et al. Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline. J Med Genet. 2020;57:859–62.

PubMed  Article  Google Scholar 

Torring PM, Kjeldsen AD, Ousager LB, Brusgaard K. ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia. Mol Genet Genom Med. 2018;6:121–25.