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NF1 with Multiple Cardiac Structural Abnormalities Leading to Cerebral Infarction
Jingwei Ye1,2, Yiyi Jiang3, Hanmin Wang1
1Department of Neurology, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou 325035, China.
Neurofibromatosis type 1 (NF1) can cause severe cardiac issues, leading to stroke. Early cardiac screening is vital for NF1 patients to prevent serious complications like infarction.
Area of Science:
- Genetics and Molecular Biology
- Cardiology
- Neurology
Background:
- Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by NF1 gene mutations, leading to RAS/MAPK pathway hyperactivation.
- Severe cardiac structural abnormalities are rarely reported complications of NF1.
- This case highlights a novel presentation of NF1 with cardiac complications leading to cerebral infarction.
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