Bosentan therapy for pulmonary arterial hypertension associated with hereditary haemorrhagic telangiectasia

2006 ◽  
Vol 36 (s3) ◽  
pp. 71-72 ◽  
Author(s):  
D. Bonderman ◽  
R. Nowotny ◽  
N. Skoro-Sajer ◽  
C. Adlbrecht ◽  
I. M. Lang
Keyword(s):  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Pulmonary Arterial

Pulmonary hypertension genes as major diagnostic tools

ESC CardioMed ◽  
2018 ◽  
pp. 2490-2493
Author(s):  
Mélanie Eyries ◽  
Barbara Girerd ◽  
David Montani ◽  
David-Alexandre Tregouët ◽  
Marc Humbert ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Gene Mutations ◽  
Diagnostic Tools ◽  
Genetic Mutations ◽  
Incomplete Penetrance ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Sporadic Cases ◽  
Pulmonary Arterial

A few genes have been shown to be major predisposing factors for pulmonary hypertension and are responsible for heritable forms of the disease. However, for nearly all genes described, not all mutation carriers develop the disease (autosomal transmission with incomplete penetrance) explaining the presence of genetic mutations in apparently sporadic cases. Beside mutations in major genes (BMPR2 for pulmonary arterial hypertension and EIF2AK4 for recessive heritable pulmonary veno-occlusive disease), other genes have been involved in a very limited number of cases (KCNK3, CAV1, and Smad8). Gene mutations are also been found as part of syndromic diseases (ACVRL1 mutations in hereditary haemorrhagic telangiectasia and TBX4 in small patella syndrome).

scholarly journals Pulmonary Arterial Hypertension and Hereditary Haemorrhagic Telangiectasia

2018 ◽  
Vol 19 (10) ◽  
pp. 3203 ◽  
Author(s):  
Veronique Vorselaars ◽  
Anna Hosman ◽  
Cornelis Westermann ◽  
Repke Snijder ◽  
Johannes Mager ◽  
...  
Keyword(s):  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Transforming Growth Factor Beta ◽  
Transforming Growth Factor ◽  
Clinical Signs ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Inherited Disease ◽  
Vascular Dysplasia ◽  
Pulmonary Arterial ◽  
Heritable Pulmonary Arterial Hypertension

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disease characterised by multisystemic vascular dysplasia. Heritable pulmonary arterial hypertension (HPAH) is a rare but severe complication of HHT. Both diseases can be the result of genetic mutations in ACVLR1 and ENG encoding for proteins involved in the transforming growth factor-beta (TGF-β) superfamily, a signalling pathway that is essential for angiogenesis. Changes within this pathway can lead to both the proliferative vasculopathy of HPAH and arteriovenous malformations seen in HHT. Clinical signs of the disease combination may not be specific but early diagnosis is important for appropriate treatment. This review describes the molecular mechanism and management of HPAH and HHT.

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