What are the screening guidelines for aortic aneurysm in Ehlers-Danlos syndrome (EDS)?

From the Guidelines

Screening for aortic Ehlers-Danlos syndrome should include baseline MRI or CT from head to pelvis to evaluate the entire aorta and its branches, with annual surveillance imaging thereafter to monitor any dilated or dissected aortic or arterial segments and imaging every 2 years when the initial imaging is normal. This approach is based on the most recent guidelines from the American Heart Association/American College of Cardiology joint committee on clinical practice guidelines 1. The guidelines emphasize the importance of imaging the aorta and branches to identify arterial segments at risk, as the onset and severity of arterial pathology correlate with the specific COL3A1 pathogenic variant.

Key aspects of screening for aortic Ehlers-Danlos syndrome include:

• Baseline imaging with MRI or CT to evaluate the entire aorta and its branches
• Annual surveillance imaging to monitor any dilated or dissected aortic or arterial segments
• Imaging every 2 years when the initial imaging is normal
• Genetic testing for COL3A1 mutations to confirm the diagnosis and guide screening intensity
• Regular blood pressure monitoring with a target below 130/80 mmHg, often managed with beta-blockers like celiprolol (100-400 mg daily) or verapamil

It's essential to note that the aorta and arterial branches in vascular Ehlers-Danlos syndrome may rupture (or dissect) even without significant dilation, highlighting the importance of regular surveillance imaging 1. Additionally, the European Society of Cardiology guidelines for the management of peripheral arterial and aortic diseases recommend a comprehensive approach to assessing PAAD, including thorough clinical, vascular, and CVRF laboratory evaluation 1. However, the most recent and highest-quality study on this topic is the 2022 ACC/AHA guideline for the diagnosis and management of aortic disease 1, which provides the basis for the recommended screening approach.

From the Research

Screening Guidelines for Aortic Ehlers-Danlos

• The natural history of aortic root dilation in hypermobile Ehlers-Danlos syndrome (hEDS) has been studied, and the prevalence of aortic root dilation (AoD) with a z-score ≥2.0 was found to be 14.2% 2.
• Routine echocardiograms may not be warranted for pediatric patients with hEDS due to the low prevalence and lack of progression of AoD 2.
• In patients with vascular Ehlers-Danlos syndrome (vEDS), aortic and arterial pathology can occur, and the most commonly affected arteries are the mesenteric arteries, followed by cerebrovascular, iliac, and renal arteries 3.
• Medical management is often the preferred treatment for aortic and arterial pathology in patients with vEDS, but endovascular interventions such as arterial embolization and stenting may be necessary in some cases 3.
• Open repair of abdominal aortic aneurysm can be well-tolerated in patients with vEDS, and should not be deterred by the presence of the syndrome 3.
• The use of aortography, computed tomography, and magnetic resonance angiography can be helpful in diagnosing multiple aortic aneurysms in patients with Ehlers-Danlos syndrome type IV 4.
• Surgical management of patients with Ehlers-Danlos syndrome type IV can be hazardous and often unrewarding due to the extreme fragility of arteries, but identification of the syndrome preoperatively and modification of surgical technique can improve outcomes 5.
• Endovascular abdominal aortic aneurysm repair can be a successful treatment option for patients with Ehlers-Danlos syndrome, and may offer advantages over open surgery due to the reduced risk of complications 6.