Does a 35-year-old male with a family history of cerebral aneurysm (Arteriovenous Malformation, AVM), thoracic aortic aneurysm, and a brother who died of cerebral aneurysm require screening?

From the Guidelines

A 35-year-old male with a significant family history of cerebral aneurysm, thoracic aortic aneurysm, and a brother who died of cerebral aneurysm should undergo screening for vascular abnormalities, prioritizing brain magnetic resonance angiography (MRA) and a CT angiogram or MRA of the thoracic aorta. Given the family history, there appears to be a pattern of vascular disease that suggests possible genetic predisposition 1. The European Heart Journal's 2024 guidelines for the management of peripheral arterial and aortic diseases recommend a comprehensive approach to assessing patients with peripheral arterial and aortic disease, including thorough clinical, vascular, and CVRF laboratory evaluation 1. While the guidelines primarily focus on patients aged 65 and above for abdominal aortic aneurysm screening, the presence of a significant family history of vascular diseases, including a brother who died of cerebral aneurysm, justifies earlier screening in this case. Key considerations for screening include:

• Brain MRA to detect cerebral aneurysms or AVMs
• CT angiogram or MRA of the thoracic aorta to check for aortic aneurysms
• Genetic counseling and testing to identify potential hereditary conditions The guidelines recommend using the same imaging modality with the same measurement method for serial imaging of the aorta over time, and considering renal function, pregnancy, age, and history of allergy to contrast media to select the optimal imaging modality with minimal radiation exposure and lowest iatrogenic risk 1. In terms of lifestyle modifications, the guidelines recommend cessation and abstinence from smoking, a healthy diet rich in legumes, dietary fibre, nuts, fruits, and vegetables, and low- to moderate-intensity aerobic activities to reduce the risk of cardiovascular disease 1. Ultimately, early detection of any vascular abnormalities through screening would allow for monitoring or intervention before potentially life-threatening complications occur, prioritizing the individual's morbidity, mortality, and quality of life.

From the Research

Screening for Aortic Aneurysm

Given the family history of cerebral aneurysm (Arteriovenous Malformation, AVM), thoracic aortic aneurysm, and a brother who died of cerebral aneurysm, the question of whether a 35-year-old male requires screening is crucial. The following points highlight the importance of screening in such cases:

• Family History: Studies have shown that approximately 20% of patients with thoracic aortic aneurysms or dissections have a positive family history, indicating a strong genetic component to the aetiology 2.
• Genetic Screening: Genetic screening in hereditary thoracic aortic disease (HTAD) may be beneficial in detecting causative genetic mutations in affected patients, identifying asymptomatic family members who may be at risk, and in guiding the optimal timing of preventative surgery in those with confirmed genetic aortopathy 2.
• Risk Factors: Environmental and epidemiologic risk factors, including smoking, male gender, hypertension, older age, dyslipidemia, atherosclerosis, and family history, are highly associated with abdominal aortic aneurysms, while heritable genetic mutations are commonly associated with aneurysms of the thoracic aorta 3.
• Screening Recommendations: The current European Society for Vascular Surgery guidelines recommend the elective treatment of thoracic aneurysms with a diameter > 55 mm, since diameters of 55 - 60 mm are associated with a rupture risk of 10 %/year 4.
• Importance of Screening: Screening of first-order relatives of probands with TAA is essential, as familial TAAs have a relatively early age of onset and tend to grow at a higher rate, exemplifying a more aggressive clinical entity 5.

Diagnostic Techniques

Various imaging techniques can be used for the diagnosis of thoracic aortic aneurysms, including:

• Computed Tomography Angiography (CTA): The gold standard for aneurysm evaluation, which allows precise diameter assessment and accurate preoperative planning 4.
• Echocardiography: A useful tool for diagnosing thoracic aortic aneurysms, especially in asymptomatic patients 6, 5.
• Magnetic Resonance Imaging (MRI): Can be used for the diagnosis of thoracic aortic aneurysms, especially in patients with contraindications to CTA 4.