Skip to content

Hereditary Haemorrhagic Telangiectasia: Novel cardiopulmonary insights


Cure HHT provided financial support for the publication of Dr. Veronique Vorselaars’ thesis which focused on the different clinical aspects of HHT including new insights ont he diagnostic use of transthoracic contrast echocardiography (TTCE) and disease associations such as pulmonary hypertension (PH). One chapter of the book gives a complete overview of the literature on PH in HHT and focuses on the most important subgroups namely: 1) high-output PH due to shunting of blood from the hepatic arteries and/or portal veins to the hepatic veins, and 2) HPAH with arteriopathy due to the HHT-related gene mutations in ENG or in particular ACVRL1.

Review Book in Cure HHT Resource Library




Publications Cited in Thesis Relating to HHT

  • The role of transthoracic contrast echocardiography in the clinical diagnosis of hereditary haemorrhagic telangiectasia. Chest, 2013
  • Pulmonary shunt fraction measurement compared to contrast echocardiography in HHT patients; time to abandon the 100% oxygen method?  Respiration, 2015
  • Reproducibility of right-to-left shunt quantification using transthoracic contrast echocardiography in hereditary haemorrhagic telangiectasia. Netherland Heart, 2017
  • Follow-up of the pulmonary right-to-left shunt with transthoracic contrast echocardiography in hereditary haemorrhagic telangiectasia. Eurpoean Respiratory Journal, 2016
  • How to follow-up patients with hereditary haemorrhagic telangiectasia and suspected pulmonary arteriovenous malformation. Eurpoean Respiratory Journal, 2016
  • Direct haemodynamic effects of pulmonary arteriovenous malformation embolisation. Netherland Heart, 2014
  • Pulmonary arteriovenous malformations: haemodynamics and shunt closure? Netherland Heart, 2014
  • SMAD4 gene mutation increases the risk of aortic dilation in patients with hereditary haemorrhagic telangiectasia. International Journal of Cardiology, 2017
  • SMAD4 gene mutation and risk of arotic dilation: Lesson from hereditary haemorrhagic telangiectasia. International Journal of Cardiology, 2017
  • Correspondence to Heald et al. Thoracic aorta dilation in patients with hereditary haemorrhagic telangiectasia due to SMAD4 gene mutation. American Journal of Medical Genetics, 2016
  • Pulmonary hypertension in a large cohort of patients with hereditary haemorrhagic telangiectasia. Respiration, 2017
  • Pulmonary hypertension in hereditary haemorrhagic telangiectasia. World Journal of Cardiology, 2015
  • Pulmonary arterial hypertension in hereditary haemorrhagic telangiectasia. Submitted
  • Percutaneous closure of the left atrial appendage in patients with atrial fibrillation and hereditary haemorrhagic telangiectasia; a new strategy to prevent strokes without excessive bleeding risk? Cardiovascular Diagnosis & Therapy, 2015
Scroll To Top