Why is an echocardiogram (echo) recommended for patients with Ehlers-Danlos Syndrome (EDS)?

Why Echocardiography is Performed in Ehlers-Danlos Syndrome

Echocardiography is recommended for patients with Ehlers-Danlos Syndrome to screen for life-threatening cardiovascular complications, particularly aortic root dilatation and mitral valve abnormalities, which occur in specific EDS subtypes and can lead to dissection, rupture, or severe valvular dysfunction. 1

Primary Cardiovascular Risks by EDS Subtype

The cardiovascular manifestations vary significantly by EDS type, making echocardiographic screening essential for risk stratification:

Vascular EDS (Type IV)

• Carries the highest mortality risk from arterial rupture and dissection, though paradoxically echocardiography is typically normal in these patients 2
• Arterial complications occur throughout the vascular tree rather than in cardiac structures specifically 2

Classic EDS

• Aortic root dilatation is common and requires surveillance 2
• Approximately 43% of patients demonstrate aortic root dilatation or valve prolapse on echocardiographic examination 3
• The American College of Cardiology designates echocardiography as a Class I recommendation for syndromes associated with cardiovascular disease and dominant inheritance patterns, specifically naming Ehlers-Danlos syndrome 1

Hypermobile EDS (hEDS)

• Aortic dilatation occurs in 20.7% of hEDS patients, though typically mild (>90% of females have mild dilatation; 50% of males have moderate-to-severe) 4
• Mitral valve prolapse is present in 7.5% of hEDS/HSD patients 4
• Recent evidence suggests routine echocardiography may not be required for hypermobile EDS without cardiac symptoms, as cardiac pathology is absent in this subtype 2

TNX-Deficient EDS

• Echocardiography is recommended at initial evaluation and when cardiac murmurs develop 5
• Mitral valve billowing may occur, though generalized cardiovascular abnormalities are uncommon 5

Surveillance Algorithm

At diagnosis:

• Perform baseline transthoracic echocardiography to measure aortic root diameter at the annulus, sinuses of Valsalva, sinotubular junction, and ascending aorta 6, 7
• Assess for mitral valve prolapse, mitral regurgitation, aortic valve abnormalities, and left ventricular function 7
• Repeat imaging at 6 months to establish rate of aortic enlargement 6, 7

Ongoing surveillance:

• Annual echocardiography if aortic root <4.5 cm and growth rate <0.5 cm/year 6, 7
• Every 6 months if aortic diameter ≥4.5 cm or growth rate ≥0.5 cm/year 6, 7
• Every 2-3 years imaging of the entire aorta until adult height is reached 6
• After reaching adult height, repeat only if cardiovascular symptoms develop or major increase in physical activity is planned 6

Specific Echocardiographic Findings to Assess

The echocardiogram should systematically evaluate:

• Aortic root dimensions at multiple levels (annulus, sinuses of Valsalva, sinotubular junction, ascending aorta) 7
• Mitral valve structure for prolapse, billowing, or flail leaflets 7, 8
• Mitral regurgitation severity, as valve fragility may necessitate replacement rather than repair 8
• Left ventricular function and dimensions, particularly with significant valvular regurgitation 7
• Aortic valve morphology for bicuspid valve or regurgitation 7
• Tricuspid valve abnormalities 7

Critical Clinical Pitfalls

Do not assume all EDS patients require the same surveillance intensity. Hypermobile EDS without cardiac symptoms may not require routine echocardiography, while classic and vascular types demand closer monitoring 2

Do not rely solely on echocardiography for vascular EDS. These patients require complete vascular imaging (MRI or CT angiography) as their primary risk involves extra-cardiac arterial dissection 9

Do not attempt mitral valve repair in EDS patients with severe regurgitation. The extreme tissue fragility often results in failed repairs requiring conversion to valve replacement intraoperatively 8

Do not overlook bone mineral density assessment. All EDS patients in one series demonstrated osteoporosis, requiring concurrent evaluation beyond cardiovascular screening 3

Recognize that cardiac symptoms do not correlate with structural abnormalities. Musculoskeletal pain symptoms are inversely related to cardiac pathology presence, and 12% of patients have cardiac symptoms despite normal echocardiograms 2

When Echocardiography May Not Be Necessary

For patients with hypermobile EDS specifically, routine cardiac evaluation and echocardiography are not required in the absence of cardiac symptoms, family history of cardiovascular disease, or physical examination findings suggesting cardiac involvement 2. This represents a significant departure from blanket screening recommendations and reflects emerging evidence about the heterogeneity of cardiovascular risk across EDS subtypes.