A Novel GDF2 Mutation in a Patient With Hereditary Hemorrhagic Telangiectasia Complicated by Acute Cerebral Infarction

ABSTRACT 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.