EJHaem · 2026
A Novel GDF2 Mutation in a Patient With Hereditary Hemorrhagic Telangiectasia Complicated by Acute Cerebral Infarction.
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Zuo Huaqin, Qian Lingling, Jing Jian, Wang Lu, Li Xiaobo, Chen Yong, Wang Xuefeng, Ding Qiulan, Gu Jian, Sun Mei
Аннотация
INTRODUCTION: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease and the growth differentiation factor 2 (GDF2) variants have been identified as an infrequent cause of HHT.
CASE REPORT: We report a 64-year-old female patient with an onset of ischemic stroke suspected related with microscopic pulmonary arteriovenous malformations. She had cutaneous vascular lesions, a history of spontaneous recurrent epistaxis, and a family history with her mother exhibiting similar clinical manifestations. The patient was diagnosed with HHT and subsequently found to have a novel heterozygous frameshift mutation of GDF2.
CONCLUSION: This case broadens the known clinical spectrum of HHT associated with GDF2 variants.
CASE REPORT: We report a 64-year-old female patient with an onset of ischemic stroke suspected related with microscopic pulmonary arteriovenous malformations. She had cutaneous vascular lesions, a history of spontaneous recurrent epistaxis, and a family history with her mother exhibiting similar clinical manifestations. The patient was diagnosed with HHT and subsequently found to have a novel heterozygous frameshift mutation of GDF2.
CONCLUSION: This case broadens the known clinical spectrum of HHT associated with GDF2 variants.