Thoracic aortic aneurysm combined with intracranial vascular abnormalities caused by dual mutations in MYLK and FBN2: a case report

Our findings expand the mutational spectrum of non-syndromic familial thoracic aortic aneurysm/dissection (TAA/D), highlighting that associated gene mutations may also predispose to intracranial vascular abnormalities. We therefore recommend routine intracranial vascular screening (e.g., CTA/DSA) for patients with familial TAA/D to detect potential intracranial lesions. This case underscores the critical need for comprehensive clinical-genetic evaluation to facilitate early diagnosis and timely intervention, which may improve patient outcomes and reduce morbidity.