scholarly journals Angioarchitecture of Hereditary Arteriovenous Malformations

2017 ◽  
Vol 34 (03) ◽  
pp. 250-257 ◽  
Author(s):  
Patricia Burrows
Keyword(s):  
Arteriovenous Malformation ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Autosomal Dominant ◽  
Imaging Biomarkers ◽  
Molecular Pathways ◽  
Imaging Features ◽  
Dominant Inheritance ◽  
Appropriate Treatment ◽  
Hereditary Conditions

AbstractThis article describes three hereditary conditions known to be associated with arteriovenous malformation (AVM), along with their clinical and imaging features and angiographic angioarchitecture. Hereditary hemorrhagic telangiectasia, capillary malformation–AVM (CM–AVM), and PTEN tumor hamartoma syndrome are conditions with autosomal dominant inheritance, caused by mutations in different molecular pathways, which frequently present with symptomatic AVMs. Imaging biomarkers, including sites of predilection, angioarchitecture, and tissue overgrowth patterns, are helpful in identifying these patients and selecting appropriate treatment.

scholarly journals De novo arteriovenous malformation in a patient with hereditary hemorrhagic telangiectasia

2016 ◽  
Vol 17 (3) ◽  
pp. 330-335 ◽  
Author(s):  
Yusuke Shimoda ◽  
Toshiya Osanai ◽  
Naoki Nakayama ◽  
Satoshi Ushikoshi ◽  
Masaaki Hokari ◽  
...  
Keyword(s):  
Family History ◽  
Arteriovenous Malformation ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Autosomal Dominant ◽  
De Novo ◽  
The Family ◽  
Systemic Disorder ◽  
History Of ◽  
Cerebral Avms

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant systemic disorder characterized by the enlargement of capillaries, recurrent nosebleeds, and multiple arteriovenous malformations (AVMs). Although cerebral AVMs are traditionally considered to be congenital lesions, some reports have described de novo AVMs, which suggests that the authors believed them to be dynamic conditions. In this article, the authors describe the case of a 5-year-old boy with HHT in whom a de novo cerebral AVM was detected after a negative MRI result at 5 months. To the authors’ knowledge, this is the first report of a de novo AVM in a patient with HHT. In patients with a family history of HHT, de novo AVMs are possible, even when no lesions are detected at the first screening. Therefore, regular screenings need to be performed, and the family should be informed that AVMs could still develop despite normal MRI results.

scholarly journals Genetic testing for hereditary hemorrhagic telangiectasia

2018 ◽  
Vol 2 (s1) ◽  
pp. 32-34
Author(s):  
Yeltay Rakhmanov ◽  
Paolo Enrico Maltese ◽  
Stefano Paolacci ◽  
Carla Marinelli ◽  
Raul Ettore Mattassi ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Clinical Trials ◽  
Differential Diagnosis ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Autosomal Dominant ◽  
De Novo ◽  
Incomplete Penetrance ◽  
Gene Test ◽  
Vascular Dysplasia

Abstract Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia characterized by telangiectases and arteriovenous malformations. These lesions cause bleeding, particularly in the nose, gastrointestinal tract and brain. HHT has incomplete penetrance, variable expressivity and genetic heterogeneity. De novo mutations associated with the onset of sporadic HHT have been reported. This Utility Gene Test was prepared on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Significant Hematochezia and Intracranial Bleeding in Neonatal Hereditary Hemorrhagic Telangiectasia

2019 ◽  
Vol 09 (01) ◽  
pp. e10-e14 ◽  
Author(s):  
Matthew Merves ◽  
Kimberly Parsons ◽  
Adina Alazraki ◽  
Jonathan Meisel ◽  
Cary Sauer ◽  
...  
Keyword(s):  
High Risk ◽  
Gastrointestinal Bleeding ◽  
Intracranial Hemorrhage ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Autosomal Dominant ◽  
Clinical Course ◽  
Vascular Dysplasia ◽  
Prenatal Imaging ◽  
Delivery Options

AbstractHereditary hemorrhagic telangiectasia (HHT) is an underreported autosomal dominant vascular dysplasia. Neonatal presentations of HHT are rare, as this disorder typically presents in adolescence or beyond with epistaxis. We report a female neonate with hematochezia on the 1st day of life secondary to multiple gastrointestinal arteriovenous malformations (AVMs) along with intracranial hemorrhage. We describe her clinical course and management, as well as her novel family mutation in ENG. This is the first reported HHT case with significant gastrointestinal bleeding in the newborn. We review neonatal HHT and raise the consideration for more directed prenatal imaging and delivery options for fetuses at high risk of HHT.

scholarly journals Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia

2020 ◽  
Vol 9 (11) ◽  
pp. 3571
Author(s):  
Carmelo Bernabeu ◽  
Pinar Bayrak-Toydemir ◽  
Jamie McDonald ◽  
Michelle Letarte
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Somatic Mutations ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Vascular Lesions ◽  
Mechanical Trauma ◽  
Internal Organs ◽  
Second Hit ◽  
Functional Mechanisms

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder that presents with telangiectases in skin and mucosae, and arteriovenous malformations (AVMs) in internal organs such as lungs, liver, and brain. Mutations in ENG (endoglin), ACVRL1 (ALK1), and MADH4 (Smad4) genes account for over 95% of HHT. Localized telangiectases and AVMs are present in different organs, with frequencies which differ among affected individuals. By itself, HHT gene heterozygosity does not account for the focal nature and varying presentation of the vascular lesions leading to the hypothesis of a “second-hit” that triggers the lesions. Accumulating research has identified a variety of triggers that may synergize with HHT gene heterozygosity to generate the vascular lesions. Among the postulated second-hits are: mechanical trauma, light, inflammation, vascular injury, angiogenic stimuli, shear stress, modifier genes, and somatic mutations in the wildtype HHT gene allele. The aim of this review is to summarize these triggers, as well as the functional mechanisms involved.

scholarly journals Embolization of a Duodenal Arteriovenous Malformation in Hereditary Hemorrhagic Telangiectasia: Case Report and Review of the Literature

2003 ◽  
Vol 17 (11) ◽  
pp. 661-665 ◽  
Author(s):  
Phil Inouye ◽  
Norman Marcon ◽  
Robin A Pugash ◽  
Robert H Hyland ◽  
Marie E Faughnan
Keyword(s):  
Case Report ◽  
Arteriovenous Malformation ◽  
Gastrointestinal Hemorrhage ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Blood Cells ◽  
Mesenteric Artery ◽  
Arteriovenous Malformations ◽  
Review Of The Literature ◽  
Lower Endoscopy ◽  
Artery Branch

A 68-year-old man with hereditary hemorrhagic telangiectasia presented with recurrent, intermittent gastrointestinal hemorrhage. Transfusion of a total of 27 units of red blood cells was required over the three months before admission. Upper and lower endoscopy did not reveal a source of bleeding and a technetium-labelled red blood cell scan was noncontributory. Angiography demonstrated a duodenal arteriovenous malformation originating from a superior mesenteric artery branch. Embolization of the arteriovenous malformation was performed with resolution of gastrointestinal hemorrhage and reduced requirement for blood transfusion. The utility of trans-catheter embolization in the management of duodenal arteriovenous malformations in hereditary hemorrhagic telangiectasia is discussed.

scholarly journals A Case of Arteriovenous Malformation of the Nasal Tip

2020 ◽  
Vol 63 (3) ◽  
pp. 123-128
Author(s):  
Yangseop Noh ◽  
Gwanghui Ryu ◽  
Hyo Yeol Kim
Keyword(s):  
Arteriovenous Malformation ◽  
Arteriovenous Malformations ◽  
Vascular Malformations ◽  
Treatment Plan ◽  
Venous Malformation ◽  
Successful Outcome ◽  
Nasal Tip ◽  
Appropriate Treatment ◽  
Superselective Embolization ◽  
Fast Flow

Arteriovenous malformation is a vascular malformation with fast-flow shunt from the artery to the vein. Extracranial arteriovenous malformation in the head and neck area is rare disease compared to other vascular malformations such as venous malformation or lymphatic malformation. Extracranial arteriovenous malformations especially on face can cause aesthetic problems, therefore surgeons should consider an importance of cosmetic outcome and choose appropriate treatment plan. We report a case of 51-year-old male who presented with enlarged nasal tip diagnosed arteriovenous malformation. This case showed successful outcome after combination therapy consisted of superselective embolization and surgical resection.

scholarly journals Hereditary hemorrhagic telangiectasia diagnosed by enteroscopy: a case report

2021 ◽  
Vol 49 (12) ◽  
pp. 030006052110673
Author(s):  
Margarita Rey ◽  
Johana Milena Salazar ◽  
Drixie Dalyla Leal ◽  
Fernando Sierra ◽  
Erika Pérez ◽  
...  
Keyword(s):  
Case Report ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Laboratory Tests ◽  
Autosomal Dominant ◽  
Double Balloon Enteroscopy ◽  
Multisystemic Disease ◽  
History Of ◽  
Patient’S History ◽  
Endoscopic Methods

Hereditary hemorrhagic telangiectasia (HHT) is a very rare autosomal dominant multisystemic disease. Patients with this disease usually present with punctate mucocutaneous telangiectasias and arteriovenous malformations. The diagnostic criteria currently in use are the Curaçao criteria. HHT is considered a clinical diagnosis; thus, no imaging or preclinical laboratory is mandatory, and diagnosis and management are performed according to the experience of the treating team. We herein describe a 58-year-old man with no significant medical history who presented with a 15-day history of intermittent hematochezia. He was admitted to the hospital and underwent a series of laboratory tests, including colonoscopy, which showed normal results. Therefore, the patient was discharged with a diagnosis of gastrointestinal bleeding. During his second visit to the emergency room, the doctors requested video capsule endoscopy because of the patient’s history, and a diagnosis of HHT was made. The entire approach and treatment were completed with antegrade double-balloon enteroscopy. This case highlights the importance of endoscopic methods for timely diagnosis and proper management.

scholarly journals Hereditary Hemorrhagic Telangiectasia: A Genetic Disorder with Oral Manifestations

2014 ◽  
Vol 3 (1) ◽  
pp. 49-52
Author(s):  
Apollonia Desiate ◽  
Stefania Cantore ◽  
Andrea Ballini
Keyword(s):  
Family History ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Oral Manifestations ◽  
Systemic Diseases ◽  
Recurrent Epistaxis ◽  
History Of ◽  
Broad Understanding

ABSTRACT The case of a 74-year-old man who was diagnosed as having hereditary hemorrhagic telangiectasia (HHT), with telangiectasies localized in oral district is presented. This condition is an autosomal dominant mucocutaneous and visceral fibrovascular dysplasia in which telangiectasia, arteriovenous malformations and aneurysms may be widely distributed throughout the cardiovascular system. It is usually recognized as a ‘triad’ of telangiectasia, recurrent epistaxis and a family history of the disorder. The nature of the practice of dentistry necessitates a broad understanding of the systemic diseases reflected in the oral cavity. Hereditary hemorrhagic telangiectasia is one such disease. How to cite this article Ballini A, Cantore S, Desiate A. Hereditary Hemorrhagic Telangiectasia: A Genetic Disorder with Oral Manifestations. Int J Experiment Dent Sci 2014; 3(1): 49-52.

Imaging of benign cervicofacial vascular anomalies and associated syndromes

2021 ◽  
pp. 159101992110349
Author(s):  
Anthony S Larson ◽  
Waleed Brinjikji ◽  
Katelyn R Anderson ◽  
Megha Tollefson ◽  
V. Michelle Silvera ◽  
...  
Keyword(s):  
Natural History ◽  
Arteriovenous Malformations ◽  
Imaging Techniques ◽  
Vascular Anomalies ◽  
Imaging Features ◽  
Venous Malformations ◽  
Genetic Syndromes ◽  
Lymphatic Malformations ◽  
Appropriate Treatment ◽  
Optimal Patient Care

Cervicofacial vascular anomalies can result in morbidity, pain, and cosmetic concerns in affected individuals. Each anomaly has its own unique natural history, treatment, and associations with underlying genetic syndromes. For optimal patient care, it is important for the neuroradiologist to accurately recognize and characterize these entities to ensure appropriate treatment and management. In this review, we discuss the general characteristics, classifications, and imaging features associated with the most common vascular anomalies such as hemangiomas, arteriovenous malformations and fistulas, capillary malformations, venous malformations, and lymphatic malformations in the context of associated syndromes. Additionally, we discuss novel imaging techniques that aid in identifying these vascular anomalies.

scholarly journals Hereditary Hemorrhagic Telangiectasia or Osler-Weber -Rendu Syndrome: Management of Epistaxis in 4 Cases

2020 ◽  
Vol 17 (2) ◽  
Author(s):  
Salina H ◽  
Lim PS ◽  
Gendeh BS
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Autosomal Dominant ◽  
Hospital Admissions ◽  
Blood Transfusions ◽  
Vascular Structure ◽  
Autosomal Dominant Disorder ◽  
Common Presentation ◽  
Severe Epistaxis ◽  
The Common

Hereditary Hemorrhagic Telangiectasia, also known as Osler-Weber-Rendu Syndrome is an autosomal dominant disorder causing systemic abnormalities of the vascular structure. There are multiple arteriovenous malformations present in the skin and mucosal surface of the nail beds, nose, gastrointestinal tract, lungs and brain. Epistaxis is the common presentation symptom, which may require multiple hospital admissions and blood transfusions. It is extremely rare disease in our population. We report 4 cases of HHT who presented to us with moderate to severe epistaxis and how we managed these patients.

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