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.