Open AccessPulmonary arterial hyper-tension in a patient with hereditary hemorrhagic telangiectasia and family gene analysis: A case report
Author(s) -
Jiahui Wu,
Yuan Yuan,
Xin Wang,
Dong-Ying Shao,
Liguo Liu,
Jian He,
Peng Li
Publication year - 2021
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v9.i13.3079
Subject(s) - medicine , telangiectasia , acvrl1 , gene , cardiology , pathology , genetics , endoglin , biology , stem cell , cd34
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant genetic disease. Very few patients suffering from HHT present with associated pulmonary arterial hypertension (PAH), which may result in a poor prognosis. Here, we report a case of HHT with PAH. The patient's clinical manifestations and treatment as well as genetic analysis of family members are reviewed, in order to raise awareness of this multimorbidity.