Related Experiment Video

Updated: May 12, 2026

A Patient-Derived Xenograft Model for Venous Malformation
06:51

A Patient-Derived Xenograft Model for Venous Malformation

Published on: June 15, 2020

Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children

Paola Giordano1, Gennaro M Lenato, Patrizia Suppressa

  • 1Pediatric Unit, Interdisciplinary Department of Medicine, University Hospital of Bari, Bari, Italy.

The Journal of Pediatrics
|March 29, 2013
PubMed

Insights

Children with hereditary hemorrhagic telangiectasia (HHT) have a high prevalence of arteriovenous malformations (AVMs). Large AVMs are linked to complications, underscoring the need for screening.

Area of Science:

  • Medical Genetics
  • Pediatric Medicine
  • Vascular Biology

Background:

  • Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder characterized by abnormal blood vessel formation.
  • Arteriovenous malformations (AVMs) are a common complication of HHT, affecting various organs.
  • Early identification and management of AVMs are crucial for preventing complications in pediatric patients.

Purpose of the Study:

  • To assess clinical features in pediatric HHT patients.
  • To identify predictors for AVM onset and clinical significance.
  • To evaluate the prevalence and characteristics of AVMs in children with genetically confirmed HHT.

Main Methods:

  • Prospective cross-sectional survey of children with genetically confirmed HHT1 or HHT2.
  • Comprehensive clinical and radiological evaluation for AVM detection.
  • Analysis of mutation type (endoglin or ACVRL1) and AVM characteristics.

Main Results:

  • 44 children (mean age 10.3 years) were evaluated.
  • AVMs were prevalent: cerebrovascular (7/44), pulmonary (20/44), and liver (23/44).
  • Large visceral AVMs were more frequent in HHT1 and associated with symptoms/complications.

Conclusions:

  • Pediatric HHT patients exhibit a high prevalence of AVMs.
  • Clinical and radiological screening protocols are recommended for early detection.
  • Large AVMs pose a clinical risk in childhood, while small AVMs appear to have minimal risk.
Abstract

More Related Videos

Adult Mouse Venous Hypertension Model: Common Carotid Artery to External Jugular Vein Anastomosis.08:27

Adult Mouse Venous Hypertension Model: Common Carotid Artery to External Jugular Vein Anastomosis.

Published on: January 27, 2015

Comprehensive Endovascular and Open Surgical Management of Cerebral Arteriovenous Malformations14:58

Comprehensive Endovascular and Open Surgical Management of Cerebral Arteriovenous Malformations

Published on: October 20, 2017

Related Concept Videos

Hemorrhagic Stroke l: Introduction01:17

Hemorrhagic Stroke l: Introduction

A hemorrhagic stroke is an acute neurological event that occurs when a weakened cerebral blood vessel ruptures, allowing blood to accumulate within or around the brain. The sudden release of blood forms a focal hematoma that increases intracranial pressure, displaces neural tissue, and can obstruct cerebrospinal fluid pathways. These effects may be compounded by intraventricular extension of the hemorrhage, cerebral edema, or compression of adjacent structures, all of which contribute to...
Esophageal Varices-I: Introduction01:24

Esophageal Varices-I: Introduction

Esophageal varices are dilated, tortuous veins which are found mainly in the submucosa of the lower esophagus but which may also appear higher up or extend into the stomach. They develop due to increased pressure in the portal venous system, often as a result of liver cirrhosis. This condition scars and damages the liver, impeding normal blood flow through the portal vein. To compensate, blood seeks alternative pathways, forming fragile new vessels (varices) in the esophagus and stomach. These...
Mechanism of Angiogenesis01:10

Mechanism of Angiogenesis

Blood vessel formation starts early during embryonic development, around day 7. In the extraembryonic yolk sac, mesodermal precursor cells called hemangioblast proliferate and differentiate into angioblast. Angioblasts express vascular endothelial growth factor receptor 2 or VEGFR2, which binds VEGF-A, a proangiogenic factor, guiding blood vessel formation. VEGF signaling promotes angioblasts to form a blood island in the developing embryo. Angioblasts further differentiate, giving rise to...
Regulation of Angiogenesis and Blood Supply01:24

Regulation of Angiogenesis and Blood Supply

Rapidly dividing tumors, embryos, and wounded tissues require more oxygen than usual, lowering the oxygen concentration in the blood. At low oxygen or hypoxic conditions, an oxygen-sensitive transcription factor called the hypoxia-inducible factor 1 or HIF1 is activated. HIF1 is a dimeric protein of alpha (ɑ) and beta (β) subunits.  Under optimal oxygen conditions, HIF1β is present in the nucleus while HIF1ɑ remains in the cytosol. HIF1ɑ is hydroxylated by prolyl hydroxylase and factor...
Esophageal Varices-II: Clinical Features and Management01:28

Esophageal Varices-II: Clinical Features and Management

Esophageal varices often manifest as gastrointestinal bleeding episodes, presenting symptoms like hematemesis (vomiting of blood), hematochezia (passing fresh blood via the rectum), and melena (black, tarry stools). Other signs can include weight loss, anorexia, abdominal discomfort, jaundice, pruritus, altered mental status, and muscle cramps.
In the initial assessment, a thorough review of the patient's medical history is vital to identify risk factors such as liver disease, alcohol abuse, or...
Hemorrhagic Stroke ll: Pathophysiology01:29

Hemorrhagic Stroke ll: Pathophysiology

A hemorrhagic stroke develops when a cerebral blood vessel ruptures, allowing blood to escape into the surrounding brain tissue, as in intracerebral hemorrhage (ICH), or into the subarachnoid space, as in subarachnoid hemorrhage (SAH). Because the skull is a rigid compartment, the sudden presence of extravascular blood rapidly increases intracranial pressure and compresses adjacent neural structures, leading to immediate tissue injury and impaired cerebral perfusion.Mass Effect and Primary...