Thoracic Aortic Aneurysm and Dissection: Review and Recommendations for Evaluation

Area of Science:

• Forensic pathology
• Cardiovascular pathology
• Genetics

Background:

• Sudden aortic death, encompassing aortic dissection and rupture, is frequently observed in forensic autopsies (0.6%-7.7%) without a standardized evaluation protocol.
• Hereditary thoracic aortic aneurysm and dissection (H-TAAD) syndromes, such as Marfan syndrome, vascular Ehlers-Danlos, and Loeys-Dietz, are identified in a significant proportion of patients (20%) and their first-degree relatives (19%).
• New genetic discoveries reveal subtle or absent external phenotypes, necessitating a high index of suspicion for H-TAAD.

Approach:

• This review synthesizes current knowledge on common H-TAAD subtypes.
• It emphasizes the importance of considering factors like hypertension, pregnancy, substance use, and microscopic aortic changes.
• Recommendations for autopsy evaluation of sudden aortic death are provided.

Key Points:

• A complete autopsy is crucial.
• Detailed documentation of aortic circumference and valve morphology is required.
• Families should be informed about the necessity of genetic screening.
• Preserving samples for potential genetic testing is recommended.

Conclusions:

• Establishing a standardized autopsy protocol for sudden aortic death is essential.
• Early identification of H-TAAD through forensic pathology enables proactive screening in at-risk families.
• This approach can prevent catastrophic vascular events and improve long-term outcomes.