Article
A novel BMPR2 mutation in a patient with heritable pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia: A case report.
Medicine - 31 Jul 2020
Ye Fanhao, Jiang Wenbing, Lin Wei, Wang Yi, Chen Hao, Zou He, Huang Shiwei, Zhu Ning, Han Sisi
Abstract excerpt
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...
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