Clinical features of pulmonary arterial hypertension in young people with an ALK1 mutation and hereditary haemorrhagic telangiectasia

2009 ◽  
Vol 94 (7) ◽  
pp. 506-511 ◽  
Author(s):  
L B Smoot ◽  
D Obler ◽  
D B McElhinney ◽  
K Boardman ◽  
B-L Wu ◽  
...  
Keyword(s):  
Pulmonary Arterial Hypertension ◽  
Young People ◽  
Arterial Hypertension ◽  
Clinical Features ◽  
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).

Clinical Features of the Systemic Sclerosis Associated Pulmonary Arterial Hypertension with Left Heart Disease

2017 ◽  
Vol 23 (10) ◽  
pp. S65
Author(s):  
Hiromu Yanagisawa ◽  
Hideyuki Kinoshita ◽  
Kouichirou Kuwahara ◽  
Hajime Yoshifuji ◽  
Kenji Moriuti ◽  
...  
Keyword(s):  
Heart Disease ◽  
Systemic Sclerosis ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Clinical Features ◽  
Left Heart ◽  
Left Heart Disease ◽  
Pulmonary Arterial

scholarly journals PULMONARY ARTERIAL HYPERTENSION IN YOUNG PEOPLE

2021 ◽  
Vol 1 (8) ◽  
pp. 2-3
Author(s):  
Felipe Wagner do Rego Barros ◽  
Antônio Mateus Henriques Nunes ◽  
Mateus Oliveira Glória ◽  
Nathália Ferreira Palomo Valle ◽  
Paula Assed Estefan Mósso
Keyword(s):  
Pulmonary Arterial Hypertension ◽  
Young People ◽  
Arterial Hypertension ◽  
Pulmonary Arterial
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