Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder characterized by epistaxis, telangiectasia, and visceral vascular manifestations. Infectious and ischemic central nervous system (CNS) manifestations due to embolism through pulmonary arteriovenous malformations (PAVMs) represent the main causes of morbidity. To improve the phenotypic characterization of HHT with PAVM, we conducted a retrospective multicenter study of patients with HHT and at least 1 PAVM detected by chest computed tomography (CT) and/or pulmonary angiography, with particular attention to CNS and infectious manifestations. The study included 126 patients (47 men, 79 women), with a mean age of 43.1 +/- 17.4 years; 45 patients had a mutation of the ENG gene and 16 had a mutation of ACVRL1. PAVMs were diagnosed as a result of systematic screening procedures (29%), incidental imaging findings (15%), dyspnea (22%), or CNS symptoms (13%). The PAVMs were diagnosed at a mean age of 43 +/- 17 years, with a linear distribution of diagnosis between 20 and 75 years. Dyspnea on exertion was present in 56% of patients. Four patients had a hemothorax, including 1 during pregnancy. Fifty-three CNS events directly related to HHT (excluding migraine) were observed...Continue Reading
Neurological manifestations of hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease): report of 2 cases and review of the literature
Two-dimensional contrast echocardiography in the detection and follow-up of congenital pulmonary arteriovenous malformations.
Transcatheter occlusion of pulmonary arterial circulation and collateral supply: failures, incidents, and complications
Effect of percutaneous transcatheter embolization on pulmonary function, right-to-left shunt, and arterial oxygenation in patients with pulmonary arteriovenous malformations
Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population
Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype
Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity
Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
Life-threatening pulmonary hemorrhage with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia
Pulmonary arteriovenous malformations: diagnosis with three-dimensional helical CT--a breakthrough without contrast media
Hepatic involvement in hereditary hemorrhagic telangiectasia: clinical, radiological, and hemodynamic studies of 11 cases
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease): new insights in pathogenesis, complications, and treatment
Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2
Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?
Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2
CAST: randomised placebo-controlled trial of early aspirin use in 20,000 patients with acute ischaemic stroke. CAST (Chinese Acute Stroke Trial) Collaborative Group
The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2
Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms
Pulmonary arteriovenous malformations: screening procedures and pulmonary angiography in patients with hereditary hemorrhagic telangiectasia
Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1
Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2
Case records of the Massachusetts General Hospital. Case 10-2010. A 37-year-old woman with weakness and a mass in the brain
Ischaemic strokes in patients with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia: associations with iron deficiency and platelets
Arterial oxygen content is precisely maintained by graded erythrocytotic responses in settings of high/normal serum iron levels, and predicts exercise capacity: an observational study of hypoxaemic patients with pulmonary arteriovenous malformations
Atrial fibrillation and right bundle branch block complicating coil embolization of a huge pulmonary arterio-venous malformation
The UK prevalence of hereditary haemorrhagic telangiectasia and its association with sex, socioeconomic status and region of residence: a population-based study
Risk of Recurrent Neurologic Stroke or Transient Ischemic Attack in Patients with Cryptogenic Stroke and Intrapulmonary Shunt
Embolization for pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia: a decision analysis
Utility of contrast echocardiography for pulmonary arteriovenous malformation screening in pediatric hereditary hemorrhagic telangiectasia
Ten-year follow-up of a patient with Osler-Weber-Rendu syndrome and recurrent cerebral abscess secondary to pulmonary arteriovenous fistula
Anaesthetic management of parturients with hereditary haemorrhagic telangiectasia for caesarean section
Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: follow-up and pathophysiologic considerations
Vein Diameter on Unenhanced Multidetector CT Predicts Reperfusion of Pulmonary Arteriovenous Malformation after Embolotherapy
Brain abscess as the first clinical manifestation of isolated pulmonary arteriovenous malformation without Rendu-Osler disease
Contrast echocardiography for pulmonary arteriovenous malformations screening: does any bubble matter?
Grade of pulmonary right-to-left shunt on contrast echocardiography and cerebral complications: a striking association
Real prevalence of pulmonary right-to-left shunt according to genotype in patients with hereditary hemorrhagic telangiectasia: a transthoracic contrast echocardiography study
Cardiopulmonary exercise testing demonstrates maintenance of exercise capacity in patients with hypoxemia and pulmonary arteriovenous malformations
Grading of pulmonary right-to-left shunt with transthoracic contrast echocardiography: does it predict the indication for embolotherapy?
An association of migraine with hereditary haemorrhagic telangiectasia independently of pulmonary right-to-left shunts
Pulmonary arteriovenous fistula complicated by venous thromboembolism and paradoxical cerebral infarction during early pregnancy
Embolotherapy for pulmonary arteriovenous malformations in patients without hereditary hemorrhagic telangiectasia.
Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia.
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