Multifocal Intracranial Stenosis and Thunderclap Headache in a Patient with Heterozygous <i>MFAP5</i> Mutation for Familial Thoracic Aortic Aneurysm and Dissection

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 <i>MFAP5</i>, 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 <i>MFAP5</i> 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.