Cargando…

A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations

We present a case series of four siblings with hereditary hemorrhagic telangiectasia (HHT) and pulmonary arteriovenous malformations (PAVM). The patients' mother has HHT. Case 1: A 22-year-old man developed dyspnea and epistaxis. CT revealed a large PAVM, treated by segmentectomy. Case 2: A 27-...

Descripción completa

Detalles Bibliográficos
Autores principales:	Yokoo, Keiki, Yamada, Gen, Chiba, Hirofumi, Ishikawa, Aki, Morisaki, Hiroko, Saijo, Hiroshi, Kudoh, Sayaka, Kitamura, Yasuo, Hirokawa, Naoki, Miyajima, Masahiro, Watanabe, Atsushi, Takahashi, Hiroki
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6068337/ https://www.ncbi.nlm.nih.gov/pubmed/30073140 http://dx.doi.org/10.1016/j.rmcr.2018.07.001

Ejemplares similares

Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations()
por: Girit, Saniye, et al.
Publicado: (2020)

Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG
por: Villa, Davide, et al.
Publicado: (2020)

5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia
por: Damjanovich, Kristy, et al.
Publicado: (2011)

ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia
por: Tørring, Pernille M., et al.
Publicado: (2017)

Embolotherapy for Pulmonary Arteriovenous Malformations in Patients without Hereditary Hemorrhagic Telangiectasia
por: Shin, Ji Hoon, et al.
Publicado: (2010)

Pulmonary Arteriovenous Malformation in a Rare Case of Hereditary Hemorrhagic Telangiectasia
por: Azad, Farhan, et al.
Publicado: (2022)

Pulmonary arteriovenous malformations in children with hereditary hemorrhagic telangiectasia: a longitudinal study
por: Mowers, Katie L., et al.
Publicado: (2018)

Pulmonary gas exchange in hereditary hemorrhagic telangiectasia patients with liver arteriovenous malformations
por: de Picciotto, Carole, et al.
Publicado: (2019)

Case report: Pulmonary arterial hypertension in ENG-related hereditary hemorrhagic telangiectasia
por: Liu, Dong, et al.
Publicado: (2022)

Novel Brain Arteriovenous Malformation Mouse Models for Type 1 Hereditary Hemorrhagic Telangiectasia
por: Choi, Eun-Jung, et al.
Publicado: (2014)

Pulmonary Arteriovenous Malformation and Embolic Myocardial Infarction in a Patient With Hereditary Hemorrhagic Telangiectasia
por: Sánchez-Fernández, Gabriel, et al.
Publicado: (2020)

Predictors of heart failure symptoms in hereditary hemorrhagic telangiectasia patients with hepatic arteriovenous malformations
por: Cusumano, Lucas R., et al.
Publicado: (2021)

Brain arteriovenous malformation in hereditary hemorrhagic telangiectasia: Recent advances in cellular and molecular mechanisms
por: Drapé, Elise, et al.
Publicado: (2022)

Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian family
por: Zevallos-Morales, Alejandro, et al.
Publicado: (2020)

uAUG creating variants in the 5’UTR of ENG causing Hereditary Hemorrhagic Telangiectasia
por: Soukarieh, Omar, et al.
Publicado: (2023)

Impact of Pulmonary Arteriovenous Malformations on Respiratory–Related Quality of Life in Patients with Hereditary Haemorrhagic Telangiectasia
por: Blivet, Sandra, et al.
Publicado: (2014)

Benefits of Treating Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Retrospective Analysis of 14 Patients
por: Woodall, M. Neil, et al.
Publicado: (2019)

Hereditary hemorrhagic telangiectasia patient presenting with brain abscess due to silent pulmonary arteriovenous malformation
por: Themistocleous, Marios, et al.
Publicado: (2016)

Localized conditional induction of brain arteriovenous malformations in a mouse model of hereditary hemorrhagic telangiectasia
por: Scherschinski, Lea, et al.
Publicado: (2023)

Hereditary Hemorrhagic Telangiectasia in a Young Adult: Gastrointestinal Arteriovenous Malformations as a Presenting Feature
por: Ravilla, Jayasree, et al.
Publicado: (2023)

Pulmonary Arteriovenous Malformation in a Patient with Suspected Hereditary Hemorrhagic Telangiectasia: A Case Report
por: Zuabi, Nadia, et al.
Publicado: (2021)

Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14
por: Letteboer, Tom G. W., et al.
Publicado: (2015)

Ischaemic Strokes in Patients with Pulmonary Arteriovenous Malformations and Hereditary Hemorrhagic Telangiectasia: Associations with Iron Deficiency and Platelets
por: Shovlin, Claire L., et al.
Publicado: (2014)

Vascular deficiency of Smad4 causes arteriovenous malformations: a mouse model of Hereditary Hemorrhagic Telangiectasia
por: Crist, Angela M., et al.
Publicado: (2018)

Smoking Significantly Impacts Persistence Rates in Embolized Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia
por: Haddad, Mustafa M., et al.
Publicado: (2019)

Neuropilin-1 deficiency in vascular smooth muscle cells is associated with hereditary hemorrhagic telangiectasia arteriovenous malformations
por: Kilari, Sreenivasulu, et al.
Publicado: (2022)

Severe Hypoxemia Caused by High-Output Heart Failure and Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia
por: Yamamoto, Hiroaki, et al.
Publicado: (2021)

Pulmonary arteriovenous malformations may be the only clinical criterion present in genetically confirmed hereditary haemorrhagic telangiectasia
por: Anderson, Emily, et al.
Publicado: (2022)

CDK6-mediated endothelial cell cycle acceleration drives arteriovenous malformations in hereditary hemorrhagic telangiectasia
por: Dinakaran, Sajeth, et al.
Publicado: (2023)

Hereditary Hemorrhagic Telangiectasia with Hepatic Vascular Malformations
por: Nishioka, Yujiro, et al.
Publicado: (2015)

Distribution of Cerebrovascular Phenotypes According to Variants of the ENG and ACVRL1 Genes in Subjects with Hereditary Hemorrhagic Telangiectasia
por: Gaetani, Eleonora, et al.
Publicado: (2022)

Severe, chronic cough caused by pulmonary arteriovenous malformations in a patient with hereditary haemorrhagic telangiectasia: case report
por: Jutant, Etienne-Marie, et al.
Publicado: (2015)

Staphylococcus intermedius Brain Abscess as a Complication of Pulmonary Arteriovenous Malformation in a Patient With Hereditary Hemorrhagic Telangiectasia
por: Moskatel, Leon S, et al.
Publicado: (2020)

Pulmonary arteriovenous malformation with unexplained cyanosis as the first presentation of hereditary haemorrhagic telangiectasia, case report, and literature review
por: Alakhfash, Ali, et al.
Publicado: (2021)

Severe pulmonary arterial hypertension in a patient with hereditary hemorrhagic telangiectasia and multiple pulmonary and hepatic arteriovenous malformations
por: Aramalla, Sunitha, et al.
Publicado: (2022)

Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia
por: Kitayama, Kana, et al.
Publicado: (2021)

Clinical Features and Mutations in the ENG, ACVRL1, and SMAD4 genes in Korean Patients with Hereditary Hemorrhagic Telangiectasia
por: Lee, Seung-Tae, et al.
Publicado: (2009)

Neuroradiological Manifestations of Hereditary Hemorrhagic Telangiectasia in 139 Japanese Patients
por: KOMIYAMA, Masaki, et al.
Publicado: ( 201)

Spontaneous pneumothorax in a patient with multiple pulmonary arteriovenous malformations caused by hereditary hemorrhagic telangiectasia: a case report
por: Takase, Yoshiaki, et al.
Publicado: (2020)

Embolization of Recurrent Pulmonary Arteriovenous Malformations by Ethylene Vinyl Alcohol Copolymer (Onyx(®)) in Hereditary Hemorrhagic Telangiectasia: Safety and Efficacy
por: Si-Mohamed, Salim A., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_587i9ulief0l6q1gb8avo0l456