Hereditary haemorrhagic telangiectasia

R Hermann, CL Shovlin, RS Kasthuri, M Serra… - Nature reviews Disease …, 2025 - nature.com
Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited as an
autosomal dominant trait and caused by loss-of-function pathogenic variants in genes …

Second international guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia

ME Faughnan, JJ Mager, SW Hetts… - Annals of internal …, 2020 - acpjournals.org
Description: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant
disease with an estimated prevalence of 1 in 5000 that is characterized by the presence of …

The use of contrast echocardiography for the detection of cardiac shunts

OII Soliman, ML Geleijnse, FJ Meijboom… - European Journal of …, 2007 - academic.oup.com
Recently, debate has erupted about the clinical significance of cardiovascular shunts.
Several major health problems such as stroke and migraine have been associated with …

[HTML][HTML] Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers

C Sabba, G Pasculli, GM Lenato, P Suppressa… - Journal of Thrombosis …, 2007 - Elsevier
Background: Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder
characterized by epistaxis, mucocutaneous telangiectases and visceral arteriovenous …

Hereditary hemorrhagic telangiectasia in pediatric age: focus on genetics and diagnosis

C Danesino, C Cantarini, C Olivieri - Pediatric Reports, 2023 - mdpi.com
Hereditary Hemorrhagic Telangiectasia (HHT) or Rendu–Osler–Weber Syndrome (ROW) is
an autosomal dominant vascular disease, with an estimated prevalence of 1: 5000. Genes …

Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children

P Giordano, GM Lenato, P Suppressa, P Lastella… - The Journal of …, 2013 - Elsevier
OBJECTIVE: To evaluate the clinical features in a large cohort of pediatric patients with
genetically confirmed hereditary hemorrhagic telangiectasia (HHT) and to identify possible …

Longitudinal assessment of Curaçao criteria in children with hereditary hemorrhagic telangiectasia

M Pollak, D Gatt, M Shaw, SL Hewko, A Lamanna… - The Journal of …, 2023 - Elsevier
Objective To assess the utility of the Curaçao criteria by age over time in children with
hereditary hemorrhagic telangiectasia (HHT). Study design This was a single-center …

Genetic syndromes with vascular malformations–update on molecular background and diagnostics

A Ustaszewski, J Janowska-Głowacka… - Archives of medical …, 2020 - pmc.ncbi.nlm.nih.gov
Vascular malformations are present in a great variety of congenital syndromes, either as the
predominant or additional feature. They pose a major challenge to the clinician: due to …

Pulmonary arteriovenous malformations in children with hereditary hemorrhagic telangiectasia: a longitudinal study

KL Mowers, L Sekarski, AJ White… - Pulmonary …, 2018 - journals.sagepub.com
Pulmonary arteriovenous malformations (PAVMs) often occur in children with hereditary
hemorrhagic telangiectasia (HHT). A 14-year longitudinal study of PAVMs in children with …

Hereditary hemorrhagic telangiectasia: diagnosis and management

SE Olitsky - American family physician, 2010 - aafp.org
Hereditary hemorrhagic telangiectasia is an uncommon autosomal dominant disease that
occurs in approximately one in 5,000 to 8,000 persons. This multisystem disorder can affect …