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Turk Kardiyol Dern Ars 2019 Mar;47(2):140-143

Department of Cardiology, Bursa Yüksek İhtisas Training and Research Hospital, Bursa, Turkey.

A pulmonary arteriovenous malformation (PAVM) is a rare anomaly that may have significant clinical complications. PAVMs are commonly seen in patients with hereditary hemorrhagic telangiectasia, while some 10% of PAVMs may be idiopathic. PAVMs can cause cyanosis, fatigue, polycythemia, and paradoxical thromboembolic complications. Read More

Neurol India 2019 Jan-Feb;67(1):312-314

Department of Neurosurgery, Tokyo Women's Medical University Medical Center East, Tokyo, Japan.

Neurochem Int 2019 Mar 8. Epub 2019 Mar 8.

Department of Neurological Surgery, University of California San Francisco, San Francisco, CA, USA.

The neurovascular unit is composed of endothelial cells, vascular smooth muscle cells, pericytes, astrocytes and neurons. Through tightly regulated multi-directional cell signaling, the neurovascular unit is responsible for the numerous functionalities of the cerebrovasculature - including the regulation of molecular and cellular transport across the blood-brain barrier, angiogenesis, blood flow responses to brain activation and neuroinflammation. Historically, the study of the brain vasculature focused on endothelial cells; however, recent work has demonstrated that pericytes and vascular smooth muscle cells - collectively known as mural cells - play critical roles in many of these functions. Read More

Curr Opin Hematol 2019 Mar 6. Epub 2019 Mar 6.

Purpose Of Review: The TGFβ (transforming growth factor β) superfamily - a large group of structurally related and evolutionarily conserved proteins - profoundly shapes and organizes the vasculature during normal development and adult homeostasis. Mutations inactivating several of its ligands, receptors, or signal transducers set off hereditary hemorrhagic telangiectasia (HHT), a disorder that causes capillary networks to form incorrectly. Drosha, an essential microRNA-processing enzyme, also interfaces with TGFβ signal transducers, but its involvement in vascular conditions had not been tested until recently. Read More

J Pediatr 2019 Mar 7. Epub 2019 Mar 7.

Division of Respiratory Medicine, Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario, Canada; Translational Medicine, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada; University of Toronto, Toronto, Ontario, Canada. Electronic address:

The evolution of pulmonary arteriovenous malformations (PAVMs) over time in children with hereditary hemorrhagic telangiectasia (HHT) is not well-defined. Herein we demonstrate that, although new PAVMs did not evolve in children with HHT, existing PAVMs exhibit quantitative growth over time highlighting the need for ongoing follow-up throughout childhood. Read More

Hinyokika Kiyo 2018 Dec;64(12):505-508

The Department of Urology, Nara Prefecture General Medical Center.

A 69-year-old man who had a history of several nasal hemorrhages and transfusions presented with hereditary hemorrhagic telangiectasia. He was referred to the previous hospital due to the elevation of prostate specific antigen (PSA) to 17.2 ng/ml, and was diagnosed with prostate cancer (cT3aN0M0, Gleason 4 + 5). Read More

Am J Med 2019 Feb 26. Epub 2019 Feb 26.

Department of Cardiology, Carle Foundation Hospital, Urbana, IL.

J Am Acad Dermatol 2019 Feb 25. Epub 2019 Feb 25.

Department of Pathology, University of Utah, Salt Lake City, Utah; Department of Radiology, University of Utah, Salt Lake City, Utah. Electronic address:

Background: The location of telangiectases in hereditary hemorrhagic telangiectasia (HHT), as set forth in the consensus diagnostic (Curaçao) criteria, is based primarily on adults.

Objective: Document the locations and numbers of telangiectases in a cohort of pediatric patients with HHT.

Methods: A retrospective chart review using a standardized data collection form for site and number of telangiectases was performed for pediatric patients with HHT (age, 0-18 years) from 2005 to 2016. Read More

Eur J Hum Genet 2019 Feb 26. Epub 2019 Feb 26.

Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, USA.

SMAD4 pathogenic variants cause juvenile polyposis (JPS) and hereditary hemorrhagic telangiectasia (HHT), and 40% of affected individuals also have thoracic aortic disease. At the same time, SMAD4 pathogenic variants have not been reported in thoracic aortic disease families without JPS-HHT. A SMAD4 heterozygous variant, c. Read More

Sudan J Paediatr 2018 ;18(2):56-60

Cardiac Sciences Department, King Abdulaziz Cardiac Center, National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.

Pulmonary arteriovenous malformations (PAVMs) are congenital defects in the form of an anomalous bridging between a pulmonary arterial and venous system that sidesteps the normal pulmonary capillary. This anomaly is usually associated with hereditary hemorrhagic telangiectasia, leftover small group are sporadic cases but may occur as an isolated anomaly or as multiple lesions. Rarely, such abnormalities can be acquired. Read More

Otolaryngol Head Neck Surg 2019 Feb;160(2):368

Otolaryngol Head Neck Surg 2019 Feb;160(2):369-370

J Med Vasc 2019 Feb 12;44(1):76-78. Epub 2018 Dec 12.

Service de médecine interne, CHU Hédi Chaker, Sfax, Tunisie.

Rendu-Osler-Weber syndrome is a rare systemic fibrovascular dysplasia, recognized by mucocutaneous telangiectasias, arteriovenous malformations, epistaxis and family history. Venous thromboembolic disease is a poor prognostic factor in this disease given the risk of increased bleeding caused by anticoagulant therapy. We report a new case of a 56-year-old patient with Osler disease who developed recurrent thromboembolic venous disease when anticoagulants were discontinued. Read More

Gene 2019 Feb 11;696:33-39. Epub 2019 Feb 11.

Molecular Medicine Department, General Biology and Medical Genetics Unit, University of Pavia, Via Forlanini 14, 27100 Pavia, Italy. Electronic address:

Hereditary hemorrhagic telangiectasia (HHT) is a vascular rare disease characterized by nose and gastrointestinal bleeding, skin and mucosa telangiectasias, and arteriovenous malformations in internal organs. HHT shows an autosomal dominant inheritance and a worldwide prevalence of approximately 1:5000 individuals. In >80% of patients, HHT is caused by mutations in either ENG (HHT1) or ACVRL1 (HHT2) genes, which code for the membrane proteins Endoglin and Activin A Receptor Type II-Like Kinase 1 (ALK1), respectively, both belonging to the TGF-β/BMP signaling pathway. Read More

Front Med (Lausanne) 2019 30;6:10. Epub 2019 Jan 30.

Université Paris Descartes, Sorbonne Paris Cité, Paris, France.

Endoglin (ENG) is a transmembrane glycoprotein expressed on endothelial cells that functions as a co-receptor for several ligands of the transforming growth factor beta (TGF-β) family. ENG is also a recognized marker of angiogenesis and mutations in the endoglin gene are responsible for Hereditary Hemorrhagic Telangiectasia (HHT) type 1, a vascular disease characterized by defective angiogenesis, arteriovenous malformations, telangiectasia, and epistaxis. In addition to its involvement in the TGF-β family signaling pathways, several lines of evidence suggest that the extracellular domain of ENG has a role in integrin-mediated cell adhesion via its RGD motif. Read More

Genet Med 2019 Feb 14. Epub 2019 Feb 14.

Department of Pathology, University of Utah, Salt Lake City, UT, USA.

Purpose: EPHB4 variants were recently reported to cause capillary malformation-arteriovenous malformation 2 (CM-AVM2). CM-AVM2 mimics RASA1-related CM-AVM1 and hereditary hemorrhagic telangiectasia (HHT), as clinical features include capillary malformations (CMs), telangiectasia, and arteriovenous malformations (AVMs). Epistaxis, another clinical feature that overlaps with HHT, was reported in several cases. Read More

Circulation 2019 Feb 12. Epub 2019 Feb 12.

Molecular Biology, Tulane University, New Orleans, LA.

Background: Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant vascular disorder caused by heterozygous, loss-of-function mutations in four TGFβ pathway members, including the central transcriptional mediator of the TGFβ pathway, Smad4. Loss of Smad4 causes the formation of inappropriate, fragile connections between arteries and veins called arteriovenous malformations (AVM), which can hemorrhage leading to stroke, aneurysm or death. Unfortunately, the molecular mechanisms underlying AVM pathogenesis remain poorly understood and the TGFβ downstream effectors responsible for HHT-associated AVM formation are currently unknown. Read More

Open Forum Infect Dis 2019 Jan 14;6(1):ofy349. Epub 2018 Dec 14.

Infectious Diseases Department, CHU de Caen, Caen, France.

Cerebral alveolar echinococcosis (AE) is rare and mostly associated with liver involvement. We report an exceptional case of a 62-year-old man with a hereditary hemorrhagic telangiectasia harboring a primary cerebral AE mimicking neurocysticercosis with >100 cerebral lesions and without liver involvement. Read More

Rhinology 2019 Feb 10. Epub 2019 Feb 10.

Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital of Marburg, Philipps-Universität Marburg, Marburg, Germany.

Statement Of Problem: Hereditary hemorrhagic telangiectasia (HHT) is characterized by recurrent epistaxis that can lead to a feeling of losing control. We assessed potential benefits and side effects of different nasal packings used by patients themselves.

Method Of Study: An online-questionnaire in English and German was used to analyze nasal self-packings. Read More

J Hum Genet 2019 Apr 6;64(4):333-339. Epub 2019 Feb 6.

Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas (CSIC), and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28040, Madrid, Spain.

Hereditary hemorrhagic telangiectasia (HHT) is a vascular disease characterized by nose and gastrointestinal bleeding, telangiectases in skin and mucosa, and arteriovenous malformations in major internal organs. Most patients carry a mutation in the coding region of the endoglin (ENG) or activin A receptor type II-1 (ACVRL1) gene. Nonetheless, in around 15% of patients, sequencing analysis and duplication/deletion tests fail to pinpoint mutations in the coding regions of these genes. Read More

Orphanet J Rare Dis 2019 02 4;14(1):28. Epub 2019 Feb 4.

VASCERN HHT Reference Center, Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, and Vascular Sciences, National Heart and Lung Institute, Imperial College London, London, UK.

Background: Hereditary hemorrhagic telangiectasia (HHT) is a multisystemic inherited vascular dysplasia that leads to nosebleeds and visceral arteriovenous malformations (AVMs). Anti-angiogenic drugs thalidomide and bevacizumab have been increasingly used off-label with variable results. The HHT working group within the ERN for Rare Multisystemic Vascular Diseases (VASCERN), developed a questionnaire-based retrospective capture of adverse events (AEs) classified using the Common Terminology Criteria for Adverse Events. Read More

Endosc Int Open 2019 Feb 30;7(2):E282-E289. Epub 2019 Jan 30.

Department of Gastroenterology and Hepatology, New York University School of Medicine, Woodhull Medical and Mental Health Center, Brooklyn, New York, United States.

 Small bowel arteriovenous malformations (AVMs) pose a bleeding risk and have traditionally been diagnosed by invasive enteroscopic procedures in patients with hereditary hemorrhagic telangiectasia (HHT). Capsule endoscopy (CE) is emerging as a safe and non-invasive alternative for small intestinal evaluation, but its diagnostic yield and utility in diagnosing small bowel AVMs in HHT patients are understudied. The aim of this study was to meta-analyze the utility of CE for diagnosing AVMs in HHT patients. Read More

Haematologica 2019 Feb;104(2):e85-e86

Hospices Civils de Lyon, Hôpital Femme-Mère-Enfants, Service de Génétique, and VASCERN HHT European Reference Centre/centre de Référence pour la maladie de Rendu-Osler, France, and Université de Lyon, Faculté de médecine, France.

Respir Med 2019 Feb 2;147:26-30. Epub 2019 Jan 2.

Actelion Clinical Research, Allschwil, Switzerland. Electronic address:

Background: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease that causes widespread abnormal vasculature development, resulting in multiple complications including pulmonary hypertension (PH). Despite the potential severity of PH, there is a lack of data on hospitalization characteristics and outcomes in the HHT-PH population. The purpose of this analysis was to describe trends and outcomes of HHT-PH hospitalizations within the National (Nationwide) Inpatient Sample (NIS). Read More

AJP Rep 2019 Jan 29;9(1):e10-e14. Epub 2019 Jan 29.

Department of Human Genetics, Emory University, Atlanta, Georgia.

Hereditary 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. Read More

Ann Otol Rhinol Laryngol 2019 Jan 29:3489419826139. Epub 2019 Jan 29.

2 Texas Children's Hospital, Houston, Texas, USA.

Background:: Severe, recurring epistaxis is the most common symptom of hereditary hemorrhagic telangiectasias (HHT). Current treatment modalities range from noninvasive treatments that frequently fail to achieve even short-term control to surgeries and systemic therapies that carry significant risk of complications. Recently, bevacizumab, a VEGF inhibitor, has been proposed as an alternative option to alleviate epistaxis symptoms in HHT. Read More

Front Cell Neurosci 2018 9;12:525. Epub 2019 Jan 9.

Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

Heterozygous loss of activin receptor-like kinase 1 (Alk1) can lead to hereditary hemorrhagic telangiectasia (HHT), which is a kind of vascular disease characterized by direct connections between arteries and veins with the lacking of capillaries, and develops into arteriovenous malformations (AVMs) in later stage. However, the changes of Alk1 in human sporadic cerebral AVMs (cAVMs) remain unknown. In the present study, we used endothelial cells (ECs) derived from human cAVMs (cAVM-ECs) specimens, to explore the characteristics of cAVM-ECs and the relationship between Alk1 and human sporadic cAVMs. Read More

Pathol Oncol Res 2019 Jan 26. Epub 2019 Jan 26.

Division of Clinical Laboratory Science, Department of Laboratory Medicine, University of Debrecen, Nagyerdei krt. 98, Debrecen, H-4032, Hungary.

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant multisystemic vascular disease with a wordwide prevalence of 1:5000-1:10000. We introduce our algorithm for the stratified population screening of HHT. Probands are selected from the consecutive hospital database review for HHT (I7800) and recurrent epistaxis (R0400) and the review of patient records referred by family practicioners. Read More

Praxis (Bern 1994) 2019 Jan;108(1):59-62

1 Spital Simmental-Thun-Saanenland AG, Thun.

An Unusual Hemisphere Syndrome Abstract. A patient with known hereditary hemorrhagic telangiectasia presents with transient right arm weakness and dizziness. A transient ischemic attack is diagnosed on clinical and risk factors. Read More

Gac Sanit 2018 Dec 29. Epub 2018 Dec 29.

Instituto de Investigación de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, España; CIBER de Enfermedades Raras (CIBERER), España. Electronic address:

Objective: To identify the mortality directly attributed to hereditary haemorrhagic telangiectasia (HHT) in Spain, and to analyze its time trends and geographic variability.

Method: Population-based deaths due to HHT were selected from the Spanish National Statistics Institute: codes 448.0 (ICD-9, 1981-1998) and I78. Read More

Laryngoscope Investig Otolaryngol 2018 Dec 14;3(6):439-445. Epub 2018 Nov 14.

Division of Pulmonary & Critical Care Cancer Treatment Centers of America Philadelphia Pennsylvania U.S.A.

Objective: A prospective, qualitative study was conducted to develop a patient-reported outcome measure (PROM) for daily administration via electronic diary (eDiary) to assess the severity of nosebleeds in patients with hereditary hemorrhagic telangiectasia (HHT), in accordance with Food and Drug Administration (FDA) PROM guidance criteria.

Methods: Three expert clinicians who treat patients with HHT provided input during instrument development, which comprised: 1) Peer-reviewed literature and instrument review; 2) Development of draft Nosebleed Diary items; 3a) Three rounds of qualitative interviews (two with a paper-based diary, one with an eDiary) with patients with documented severe epistaxis related to HHT, for concept elicitation and cognitive debriefing; 3b) Face validity and translatability assessment; 3c) Patient evaluation of the usability and acceptability of the eDiary device; and 4) Preparation of the final Nosebleed eDiary and conceptual framework.

Results: No existing instruments were identified that evaluate HHT-related nosebleed severity daily and meet FDA PROM guidance criteria. Read More

Chirurgia (Bucur) 2018 Nov-Dec;113(6):837-848

Hereditary haemorrhagic telangiectasia (HHT) is a rare autosomal dominant genetic disorder characterized by arteriovenous malformations (AVMs) mainly affecting the lungs and the liver. In this case AVM's resulted in liver cirrhosis and an indication for orthotopic liver transplantation (OLT). A 59 year-old male patient with HHT who had been previously diagnosed with Multiple Endocrine Neoplasia type 1 Syndrome (MEN 1) was listed for OLT for end-stage liver disease due to hepatic AVMs. Read More

Neurology 2019 Jan;92(1):34-42

From the Department of Medical Imaging (J.M.K., L.C., S.M., T.K.), Division of Respirology (M.E.F.) and Department of Paediatrics (F.R.), Department of Medicine, and Division of Neurosurgery (T.K.), Department of Surgery, University of Toronto; Division of Neuroradiology (J.M.K., L.C., S.M., T.K.), Toronto Western Hospital, University Health Network, Canada; Departments of Radiology and Pathology (J.M.), University of Utah School of Medicine, Salt Lake City; Toronto HHT Centre, Division of Respirology, Department of Medicine, and Li Ka Shing Knowledge Institute (M.E.F.), St. Michael's Hospital, Toronto; and Division of Respiratory Medicine (F.R.), the Hospital for Sick Children, Toronto, Canada.

Hereditary hemorrhagic telangiectasia (HHT) is generally considered a disorder of endothelial dysfunction, characterized by the development of multiple systemic arteriovenous malformations (AVMs), including within the brain. However, there have recently been a number of reports correlating HHT with malformations of cortical development, of which polymicrogyria is the most common type. Here we present 7 new cases demonstrating polymicrogyria in HHT, 6 of which demonstrate a brain AVM (bAVM) in close spatial proximity, with the aim of providing a common origin for the association. Read More

J Am Heart Assoc 2018 Nov;7(21):e009514

1 Department of Physiology and Functional Genomics College of Medicine University of Florida Gainesville FL.

Background Hereditary hemorrhagic telangiectasia ( HHT ) is a rare genetic vascular disorder caused by mutations in endoglin ( ENG ), activin receptor-like kinase 1 ( ACVRL 1; ALK 1), or SMAD 4. Major clinical symptoms of HHT are arteriovenous malformations ( AVM s) found in the brain, lungs, visceral organs, and mucosal surface. Animal models harboring mutations in Eng or Alk1 recapitulate all of these HHT clinical symptoms and have been useful resources for studying mechanisms and testing potential drugs. Read More

Circulation 2018 Dec;138(23):2698-2712

Einthoven Laboratory for Experimental Vascular Medicine, Department of Internal Medicine (Nephrology), Leiden University Medical Center, The Netherlands (J.H.T., G.G., H.C.d.B., T.J.R., K.R., F.L.).

Background: Hereditary Hemorrhagic Telangiectasia type 2 (HHT2) is an inherited genetic disorder characterized by vascular malformations and hemorrhage. HHT2 results from ACVRL1 haploinsufficiency, the remaining wild-type allele being unable to contribute sufficient protein to sustain endothelial cell function. Blood vessels function normally but are prone to respond to angiogenic stimuli, leading to the development of telangiectasic lesions that can bleed. Read More

Hepatology 2018 Dec 14. Epub 2018 Dec 14.

Département de Biologie et Pathologie Médicales, Service de Pathologie Moléculaire, Gustave Roussy Cancer Campus, Villejuif, France.

Liver transplantation (LT) has been proposed as a curative treatment in hereditary hemorrhagic telangiectasia (HHT) with severe hepatic involvement. We provide a long-term evaluation of graft status after LT for HHT, with a focus on the risk of recurrence. The present study included all patients prospectively followed up after LT for HHT in the Lyon Liver Transplant Unit from 1993 to 2010, with a survival of more than 1 year. Read More

Ear Nose Throat J 2018 Dec;97(12):388

Laboratory of Phonetics, Faculty of Psychology, Research Institute for Language Sciences and Technology, University of Mons, Mons, Belgium.

Clin Imaging 2019 Mar - Apr;54:37-39. Epub 2018 Dec 2.

Department of Radiology, Beth Israel Deaconess Medical Center, 330 Brookline Ave., Boston, MA 02215, USA.

Juvenile polyposis syndrome (JPS) may coexist with hereditary hemorrhagic telangiectasia (HHT) due to implication of the SMAD4 gene in a subset of both diseases. To the best of our knowledge, we present the first case in the radiologic literature on the MRI findings in a patient with this rare combined diagnosis undergoing workup for burden of disease. Read More

Can J Neurol Sci 2019 Jan 6;46(1):44-50. Epub 2018 Dec 6.

Department of Medicine, Division of Pulmonary,University of Alberta,Edmonton, Alberta,Canada.

Background: Hereditary hemorrhagic telangiectasia (HHT) is a disease of abnormal vasculature where patients are predisposed to strokes of multiple etiologies. We assessed yearly stroke incidence among Albertans with HHT and compared with the general population. Given the tendency for stroke in HHT patients, we expected HHT patients to have higher stroke incidence, in particular at younger ages. Read More

Can J Physiol Pharmacol 2018 Dec 4. Epub 2018 Dec 4.

St. Michael's Hospital, Cardiology , 30 Bond Street , Toronto, Ontario, Ontario, Canada , M5B 1W8 ;

Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disorder inherited in an autosomal dominant manner. Patients with HHT can develop vascular dysplasias called telangiectasias and arteriovenous malformations (AVMs). Our objective was to profile and characterize microRNAs (miRs), short-noncoding RNAs that regulate gene expression post-transcriptionally, in HHT patient derived peripheral blood mononuclear cells (PBMCs). Read More

Clin Res Hepatol Gastroenterol 2018 Nov 14. Epub 2018 Nov 14.

Assistance publique-hôpitaux de Paris, hôpital Beaujon, service d'hépatologie, Inserm U1149, université Paris Diderot, 92110 Clichy, France.

Dtsch Med Wochenschr 2018 Nov 15;143(23):1690-1699. Epub 2018 Nov 15.

Many systemic diseases go along with dermal involvement. Only a few of systemic diseases show characteristic skin derangements directly leading to the diagnosis of the underlying disease. Ten of these entities are described within this article. Read More

Cardiovasc Intervent Radiol 2019 Mar 14;42(3):389-395. Epub 2018 Nov 14.

Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, 1800 Orleans Street, Zayed Tower 7203, Baltimore, MD, 21287, USA.

Purpose: To describe our institutional experience with MVP™ micro vascular plug systems for the treatment of pulmonary arteriovenous malformations (PAVMs).

Materials And Methods: We performed a retrospective medical record review of 52 patients with 119 PAVMs treated exclusively with MVP™ systems (69 procedures/153 MVP™ systems) between July 2014 and July 2018. All patients had PAVMs with feeding artery diameters ≥ 2 mm. Read More

Med Clin (Barc) 2018 Nov 1. Epub 2018 Nov 1.

Servicio de Radiodiagnóstico, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Tenerife, España.

World Neurosurg 2019 Feb 1;122:322-325. Epub 2018 Nov 1.

Department of Neurosurgery, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.

Background: Pial arteriovenous fistulas (PAVFs) are rare, accounting for 1.6%-4.7% of all intracranial vascular malformations. Read More

Eur J Med Genet 2018 Oct 30. Epub 2018 Oct 30.

Hospices Civils de Lyon, Genetic Department and National HHT Reference Center, Femme-Mère-Enfants Hospital, Bron, F-69677, France.

Hereditary hemorrhagic telangiectasia is usually linked to the presence of a pathogenic mutation ACVRL1 or ENG. Thus, apparently there is no benefit to perform an array CGH in case of HHT. However, ENG has been involved in a contiguous gene syndrome due to a de novo 9q33. Read More

Int J Cardiovasc Imaging 2018 Nov 1. Epub 2018 Nov 1.

Division of Interventional Radiology, Department of Radiology, University of Texas Southwestern Medical Center, Dallas, TX, USA.

Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. Although asymptomatic in ~ 50% individuals, it can present with the dreaded complications of stroke or intracranial abscess in high-risk individuals including pregnant women, if untreated. The mainstay of treatment is now endovascular embolization of the feeding artery which can alleviate the symptoms and prevent these complications. Read More

J Neuroimaging 2019 Mar 31;29(2):165-181. Epub 2018 Oct 31.

Department of Interventional Radiology, Sanford Aberdeen Clinic, Aberdeen, SD.

Congenital cerebrovascular anomalies in the pediatric age group are myriad with diverse etiologies. The purpose of this paper is to provide an imaging overview of congenital vascular malformations and vascular tumors, as these conditions are varied and the characteristic vascular abnormality may even suggest the underlying systemic condition in helping to guide further management. For example, the identification of an arterial anomaly such as agenesis/hypoplasia/duplication may warrant further evaluation for an associated syndrome. Read More

Vasc Med 2018 Oct 24:1358863X18803162. Epub 2018 Oct 24.

2 Dermatology, University Hospital Rennes.

Int J Mol Sci 2018 Oct 17;19(10). Epub 2018 Oct 17.

Department of Cardiology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands.

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disease characterised by multisystemic vascular dysplasia. Heritable pulmonary arterial hypertension (HPAH) is a rare but severe complication of HHT. Both diseases can be the result of genetic mutations in and encoding for proteins involved in the transforming growth factor-beta (TGF-β) superfamily, a signalling pathway that is essential for angiogenesis. Read More