MFAP5유전자 변이를 가진 가족성 흉부대동맥류 및 박리 환자의 벼락두통과 다발성 두개 내 혈관협착
Multifocal Intracranial Stenosis and Thunderclap Headache in a Patient with Heterozygous MFAP5 Mutation for Familial Thoracic Aortic Aneurysm and Dissection
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초록
Recent investigations on familial thoracic aortic aneurysm and dissection (TAAD) identified several genetic variants. Meanwhile, intracranial vasculopathy in familial TAAD has been scarcely reported. We report a case of a young man with Marfanoid habitus and familial TAAD carrying MFAP5, c.472C>T variant. He presented with recurrent thunderclap headache and multifocal intracranial vasculopathy, which is predominantly suggestive of reversible cerebral vasoconstriction syndrome. While the role of MFAP5 in vasculopathy requires clarification, we propose its haploinsufficiency may contribute to both TAAD and intracranial stenosis, highlighting a potential risk of cerebrovascular disease in familial TAAD.
Abstract
Recent investigations on familial thoracic aortic aneurysm and dissection (TAAD) identified several genetic variants. Meanwhile, intracranial vasculopathy in familial TAAD has been scarcely reported. We report a case of a young man with Marfanoid habitus and familial TAAD carrying MFAP5, c.472C>T variant. He presented with recurrent thunderclap headache and multifocal intracranial vasculopathy, which is predominantly suggestive of reversible cerebral vasoconstriction syndrome. While the role of MFAP5 in vasculopathy requires clarification, we propose its haploinsufficiency may contribute to both TAAD and intracranial stenosis, highlighting a potential risk of cerebrovascular disease in familial TAAD.
참고문헌 (10)
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