What are the imaging guidelines for patients with non-vascular Ehlers-Danlos Syndrome (EDS), specifically those with hypermobile or classical EDS?

Imaging Guidelines for Non-Vascular Ehlers-Danlos Syndrome

For patients with hypermobile or classical EDS, baseline echocardiography is recommended to evaluate for aortic root dilation, followed by repeat echocardiography every 2-3 years until adult height is reached if the aortic root is normal. 1

Initial Diagnostic Imaging

Baseline Echocardiography

• Transthoracic echocardiography (TTE) should be performed at initial evaluation to assess for aortic root dilation, which occurs in one-quarter to one-third of individuals with classical and hypermobile EDS 1
• The echocardiogram should specifically evaluate the aortic root diameter, sinuses of Valsalva, and assess for valvular abnormalities including mitral valve prolapse 1, 2
• A dilated eye exam should also be performed to exclude Marfan syndrome 1

Important Context on Cardiac Findings

While older guidelines recommended routine cardiac surveillance, recent high-quality research demonstrates that clinically significant cardiac abnormalities are uncommon in hypermobile and classical EDS. Studies from 2019-2020 show that aortic dilation was absent in hypermobile EDS patients, and when present in classical EDS, it was typically mild and of little clinical consequence 3, 4, 5. However, the established guidelines still recommend baseline assessment given the 15-25% prevalence of mild aortic dilation 1.

Surveillance Imaging Based on Initial Findings

For Normal Aortic Root Size

• Repeat echocardiography every 2-3 years until adult height is reached 1, 2
• After reaching adult height with consistently normal findings, repeat echocardiography only if cardiovascular symptoms develop or when a major increase in physical activity is planned 1
• There is no evidence supporting routine ongoing surveillance in asymptomatic adults with consistently normal echocardiograms 4, 5

For Aortic Root Dilation (if present)

• Echocardiography every 6 months if aortic root dilation is documented 1
• More frequent monitoring is necessary based on the diameter and rate of increase 2

Important Caveat on Pediatric vs. Adult Findings

Patients whose first echocardiogram is obtained in late childhood or adulthood are significantly less likely to have aortic dilation compared to those evaluated in early childhood (p<0.002) 4. Longitudinal data shows that aortic dilation identified before age 14 typically does not persist into adulthood, and no patient with a normal aortic root in childhood developed dilation in adulthood 4.

Advanced Imaging: When NOT Indicated

Complete Aortic and Peripheral Vascular Imaging

Unlike vascular EDS, routine surveillance of the entire aorta and peripheral arteries with CT, MRI, or duplex ultrasound is NOT recommended for hypermobile or classical EDS 1. This comprehensive vascular surveillance is specifically reserved for vascular EDS patients who require regular monitoring due to their high risk of arterial dissection and rupture 1, 6.

Key Distinction from Vascular EDS

The 2024 ESC Guidelines clearly differentiate imaging protocols: vascular EDS requires "regular vascular surveillance of the aorta and peripheral arteries by DUS, CCT, or CMR" 1, while this extensive surveillance is not indicated for non-vascular subtypes. There is no thought to be a risk of dissection without significant aortic root dilatation in hypermobile and classical EDS 1.

Emerging Evidence Challenging Routine Surveillance

Recent Research Findings

Multiple high-quality studies from 2019-2022 demonstrate:

• Cardiac pathology is absent in the vast majority of hypermobile EDS patients, leading researchers to conclude that "routine cardiac evaluation and echocardiography are not required for patients with hypermobile EDS" 3
• When aortic dilation occurs in classical EDS, it is mild in >90% of females and tends to be of little clinical consequence 7, 4
• Only 6% of patients had mitral valve prolapse, with just 0.4% having mild-to-moderate MVP 4
• No patients required cardiac intervention in a cohort of 95 patients with classical or hypermobile EDS 5

Clinical Implications

Despite this emerging evidence suggesting minimal cardiac risk, the established 2012 guidelines from the American College of Medical Genetics still recommend baseline echocardiography and periodic surveillance 1. This represents a conservative approach prioritizing early detection of the minority of patients who may develop progressive aortic dilation.

Common Pitfalls to Avoid

• Do not order comprehensive aortic imaging (CT/MRI from head to pelvis) for non-vascular EDS subtypes – this is only indicated for vascular EDS 1, 6
• Do not continue routine surveillance echocardiography in asymptomatic adults with consistently normal findings – the evidence shows no progression to dilation in this population 4, 5
• Do not assume all EDS patients require the same intensive vascular monitoring – vascular EDS has fundamentally different risks and requires much more aggressive surveillance 1
• Recognize that cardiac symptoms (present in 12% of patients) do not correlate with abnormal cardiac structure in hypermobile EDS 3