OBJECTIVE To assess the clinical and genetic characteristics of symptomatic children with hereditary hemorrhagic telangiectasia (HHT). DESIGN Cross-sectional study. SETTING The HHT clinics in Toronto. PARTICIPANTS All children with symptomatic HHT treated from April 1, 1996, through December 31, 2002. INTERVENTIONS Participants were screened for visceral arteriovenous malformations (AVM...

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterised by epistaxis, telangiectases, and multiorgan vascular dysplasia. The two major types of disease, HHT1 and HHT2, are caused by mutations in the ENG (endoglin) and ACVRL1 genes, respectively. The corresponding endoglin and ALK-1 proteins are specific endothelial receptors of the transforming growth factor...

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant blood vessel disorder characterized by the presence of arteriovenous malformations (AVMs), epistaxis, and mucocutaneous telangiectases. AVMs are present in lungs, brain, liver, and spine. Children and adults share the same manifestations, with epistaxis and skin telangiectases being the most common. Parents often seek medical ...

Hereditary haemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder, characterised by the presence of vascular malformations. The pulmonary vascular complications of HHT include pulmonary arteriovenous malformations, pulmonary hypertension associated with high-output heart failure and liver vascular malformations and, finally, pulmonary arterial hypertension secondary to HHT. In ...

Hereditary haemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu syndrome is an autosomal dominant vascular dysplasia characterised by recurrent haemorrhage. Our initial linkage studies found an HHT gene to be localised to 9q3 in two large kindreds. In the present study, we examine an additional five unrelated HHT families. Linkage analysis in this region resulted in a peak multipoint location...

OBJECTIVE Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia. Most cases are caused by mutations in the endoglin gene on chromosome 9 (HHT type 1) or the activin receptor-like kinase 1 gene on chromosome 12 (HHT type 2), which leads to telangiectases and arteriovenous malformations (AVM) of the skin, mucosa, and viscera. Epistaxis is the most frequent presen...

Abstract In this paper, the Innovative Trend Methodology (ITM) and their inspired approaches, i.e., Double (D-ITM) Triple (T-ITM), were combined with Hilbert Huang transform (HHT) time frequency-based method. The new hybrid methods (i.e., ITM-HHT, D-ITM-HHT, T-ITM-HHT) proposed compared to DWT-based in order recommend best Three total annual rainfall series from 1920 2011 selected three hydrolo...

Patients with hereditary haemorrhagic telangiectasia (HHT, or Osler-Weber-Rendu syndrome) have variable presentation patterns and a high risk of preventable complications. Diagnostic tests for mutations in endoglin (HHT type 1) and ALK-1 (HHT type 2) are available. Some HHT patients are now known to have HHT-juvenile polyposis overlap syndrome due to Smad4 mutations. Families were ascertained f...

BACKGROUND Hereditary hemorrhagic telangiectasia (HHT), a rare autosomal dominant disease, is considered under-diagnosed. Our primary objective was to provide evidence of under-diagnosis of HHT in a North American population. We hypothesized that variation would exist in the diagnosed prevalence (D-prevalence) across regions in the province of Ontario, Canada and across age groups, due to under...

BACKGROUND Hereditary hemorrhagic telangiectasia (HHT) is a hereditary disorder, leading to easily bleeding telangiectases on the skin and mucosal surfaces. The disease is associated with arteriovenous malformations in multiple organs. Potentially serious complications warrant an early diagnosis. Telangiectases are the hallmark of the disease, but may be difficult to distinguish. OBJECTIVES T...