Open AccessA novel BMPR2 mutation in a patient with heritable pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia
Author(s) -
Fanhao Ye,
Jiang Wen-bing,
Wei Lin,
Yi Wang,
Hao Chen,
Zou He,
ShiWei Huang,
Ning Zhu,
Sisi Han
Publication year - 2020
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000021342
Subject(s) - medicine , acvrl1 , telangiectasia , bmpr2 , ambrisentan , pulmonary hypertension , telangiectases , mutation , endoglin , cardiology , surgery , gene , bosentan , bone morphogenetic protein , biochemistry , chemistry , genetics , receptor , stem cell , cd34 , endothelin receptor , biology
Abstract Rationale: BMPR2 mutation is the most common cause of heritable pulmonary arterial hypertension (HPAH), but rare in hereditary hemorrhagic telangiectasia (HHT). ACVRL1 , ENG and SMAD4 are the most common gene mutations reported in HPAH with HHT. Patient concerns: We report a 11-year-old boy with a definite diagnosis of pulmonary hypertension and suspected HHT with recurrent epistaxis. The results of gene detection showed that there was a nosense mutation in BMPR2 . The results of gene detection of ACVRL1, ENG and SMAD4 were normal. Diagnoses: Heritable pulmonary arterial hypertension with suspected hereditary hemorrhagic telangiectasia. Interventions: Patient was treated with ambrisentan 2.5 mg qd. About a month later, the patient developed massive gastrointestinal bleeding and sudden convulsions. The patient's vital signs were stable after symptomatic treatment. Outcomes: After discharging from hospital, the patients continued to take ambrisentan. No epistaxis or gastrointestinal bleeding was found in one month of follow-up, but the symptoms of chest tightness were not significantly alleviated. Lessons: BMPR2 with a nonsense mutation is more likely to cause HPAH with HHT and are more likely to be life-threatening.