Overview
Bicuspid aortic valve (BAV)-associated aortopathy refers to a spectrum of aortic abnormalities, including aneurysms and dissections, often seen in patients with a congenital bicuspid valve. These conditions are characterized by impaired aortic architecture and increased risk of aortic complications 14.Diagnosis
Clinical Evaluation: Family history of aortic disease and presence of bicuspid valve 17.
Imaging Studies: Echocardiography, CT, or MRI to assess aortic dimensions and morphology 15.
Genetic Testing: Considered for syndromic cases to identify specific mutations (e.g., COL3A1, EFEMP2) 68.
Shear Stress Analysis: Perioperative 4D flow MRI to evaluate thoracic aortic wall shear stress patterns 5.Management
Medical Therapy:
- Statins: Recommended for abdominal aortic aneurysms due to potential protective effects against aortic atherosclerosis 3.
- Beta-Blockers and Angiotensin II Receptor Blockers: Used to manage hypertension and reduce aortic wall stress 8.
Surgical Interventions:
- Thoracic Endovascular Aortic Repair (TEVAR): Effective for descending thoracic aortic pathologies but requires careful patient selection due to potential complications 1.
- Open Surgical Repair: Necessary for arch and thoracoabdominal aortic aneurysms 1.
Access Site Management: Percutaneous closure devices can be safely used in patients with genetic aortopathy without increased complication rates 2.Special Populations
Pediatrics: Screening asymptomatic pediatric relatives requires cautious evaluation of risks and benefits due to potential harms outweighing immediate benefits 7.
Elderly: Specific considerations for surgical risk stratification and management tailored to comorbid conditions are essential 15.
Comorbidities: Management should account for coexisting conditions like hypertension, which may influence both medical and surgical approaches 38.Key Recommendations
Select Patients for TEVAR Carefully: Due to higher rates of secondary interventions, thorough patient evaluation is crucial for those with syndromic genetic aortopathy 1 (Evidence: Moderate).
Consider Statins for Abdominal Aortic Aneurysms: Given their safety profile and potential protective effects, statins are recommended for managing abdominal aortic aneurysms 3 (Evidence: Moderate).
Use Percutaneous Closure Devices Safely in Genetic Aortopathy: These devices can be utilized without increased risk of access site complications in patients with genetic aortopathy 2 (Evidence: Moderate).
Genetic Testing for Specific Syndromes: Perform targeted next-generation sequencing in atypical cases to identify specific mutations like COL3A1 or EFEMP2 68 (Evidence: Strong).
Evaluate Shear Stress Patterns Preoperatively: Utilize 4D flow MRI to assess and guide surgical interventions for optimal aortic wall management 5 (Evidence: Moderate).References
1 Willie-Permor D, Veranyan N, Abdelkarim A, Straus S, Rahgozar S, Wellington H et al.. Contemporary Outcomes of Thoracic Endovascular Aortic Repair in Patients with Syndromic Genetic Aortopathy: A Multi-Centre National Study. Annals of vascular surgery 2026. link
2 Sorber R, Smerekanych S, Pang HJ, Murphy BE, Dansey K, Sweet MP et al.. Utilization of percutaneous closure devices for large bore arterial access in patients with genetic aortopathy does not result in increased rates of access site complications. Journal of vascular surgery 2025. link
3 Vollaro M, Sharma T, Sharma M, Frishman WH, Aronow WS. Aortopathy: Effects of Lipid-Lowering Therapy. Cardiology in review 2025. link
4 Pulignani S, Borghini A, Foffa I, Vecoli C, Ait-Alì L, Andreassi MG. Functional characterization and circulating expression profile of dysregulated microRNAs in BAV-associated aortopathy. Heart and vessels 2020. link
5 Bollache E, Fedak PWM, van Ooij P, Rahman O, Malaisrie SC, McCarthy PM et al.. Perioperative evaluation of regional aortic wall shear stress patterns in patients undergoing aortic valve and/or proximal thoracic aortic replacement. The Journal of thoracic and cardiovascular surgery 2018. link
6 Zhang W, Han Q, Zhou M, Ran F, Qiao T, Yi L et al.. Identification of a missense mutation of COL3A1 in a Chinese family with atypical Ehlers-Danlos syndrome using targeted next-generation sequencing. Molecular medicine reports 2017. link
7 Richer J, Laberge AM. Screening Children for Familial Aortopathies: Tread With Caution. The Canadian journal of cardiology 2016. link
8 Hebson C, Coleman K, Clabby M, Sallee D, Shankar S, Loeys B et al.. Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature. European journal of pediatrics 2014. link