Pulmonary arterial hyper-tension in a patient with hereditary hemorrhagic telangiectasia and family gene analysis:A case report  

作　　者：Jian Wu Yuan Yuan Xin Wang Dong-Ying Shao Li-Guo Liu Jian He Peng Li 

机构地区：[1]Department of Anesthesiology,Shengjing Hospital of China Medical University,Shenyang 110004,Liaoning Province,China [2]Department of Emergency Medicine,Shengjing Hospital of China Medical University,Shenyang 110004,Liaoning Province,China [3]Department of Ultrasound,Shengjing Hospital of China Medical University,Shenyang 110004,Liaoning Province,China [4]Department of Cardiology,Fushun Second Hospital,Fushun 113001,Liaoning Province,China [5]Department of Gastroenterology,Fushun Second Hospital,Fushun 113001,Liaoning Province,China [6]Department of Ultrasound,Fushun Central Hospital,Fushun 113006,Liaoning Province,China [7]Department of Pulmonary and Critical Care Medicine,Shengjing Hospital of China Medical University,Shenyang 110004,Liaoning Province,China

出　　处：《World Journal of Clinical Cases》2021年第13期3079-3089,共11页世界临床病例杂志

摘　　要：BACKGROUND 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.CASE SUMMARY A 45-year-old Chinese woman was admitted to the hospital to address a complaint of intermittent shortness of breath,which had lasted over the past 2 years.She also had a 30-year history of recurrent epistaxis and 5-year history of anemia.She reported that the shortness of breath had aggravated gradually over the 2 years.Physical examination discovered anemia and detected gallop rhythm in the precordium.Chest computerized tomography and cardiac ultrasound demonstrated PAH and hepatic arteriovenous malformation.The formal clinical diagnosis was HHT combined with PAH.The patient was treated with ambrisentan and her condition improved for a time.She died half a year after the diagnosis.Genetic testing revealed the patient and some family members to carry an activin A receptor-like type 1 mutation(c.1232G>A,p.Arg411Gln);the family was thus identified as an HHT family.CONCLUSION We report a novel gene mutation(c.1232G>A,p.Arg411Gln)in a Chinese HHT patient with PAH.

关 键 词：Hereditary hemorrhagic telangiectasia Pulmonary arterial hypertension Activin A receptor-like type 1 Activin receptor-like kinase 1 Arteriovenous malformation Endothelin receptor antagonist Case report 

分 类 号：R596.1[医药卫生—内科学] R544.1[医药卫生—临床医学]