Are baseline cardiac studies, such as echocardiography (echo), necessary for a 40-year-old patient with non-vascular Ehlers-Danlos Syndrome (EDS) who is otherwise asymptomatic and has no significant cardiac history?

Baseline Cardiac Studies in 40-Year-Old Non-Vascular EDS Patients

Baseline echocardiography is not routinely indicated for asymptomatic 40-year-old patients with non-vascular (hypermobile or classical) Ehlers-Danlos syndrome who have no cardiac symptoms or family history of aortic dissection.

Evidence-Based Rationale

Guideline Recommendations for EDS

The 2003 ACC/AHA echocardiography guidelines specifically address EDS, stating that echocardiography is indicated for "presence of a syndrome associated with cardiovascular disease and dominant inheritance or multiple affected family members (eg, Marfan syndrome or Ehlers-Danlos syndrome)" 1. However, this recommendation was written before the 2017 nosology update that distinguished vascular EDS from hypermobile/classical types, and the guideline groups vascular and non-vascular EDS together without differentiation 1.

The critical distinction is that vascular EDS (type IV) carries significant cardiovascular risk, while hypermobile and classical EDS (types I, II, III) have substantially lower cardiac involvement 2, 3.

Contemporary Research Evidence

The most recent and highest-quality study directly addressing this question is the 2024 pediatric longitudinal echocardiography study in hypermobile EDS patients 2. This study found:

• Only 15/225 (6.7%) had initial aortic root Z-scores >2.0, with none exceeding Z-score >3.0 2
• On serial follow-up, aortic root Z-scores declined significantly over time 2
• Final examination showed only 9/225 (4.0%) with Z-score >2.0, not statistically different from the general population 2
• No aortic dissections occurred in first- or second-degree relatives 2
• The authors explicitly concluded: "in the absence of other cardiac findings or suspicion for another disorder, echocardiography is not required in hEDS" 2

Supporting Evidence from Adult Studies

A 1997 British study of 33 EDS patients (primarily types I, II, III) using modern two-dimensional echocardiography found 3:

• Echocardiographic abnormalities in only 12.1% of EDS patients versus 6.7% of controls (not statistically significant) 3
• Mitral valve prolapse in 6.1% of EDS patients versus 7% of controls 3
• No patients with type IV EDS had any echocardiographic abnormality 3
• No patients had mean aortic dimensions outside the normal range 3

The 2022 adult study of 258 patients with hEDS/HSD found 4:

• Mitral valve prolapse in 7.5% and thoracic aortic dilatation in 15.2% 4
• Aortic dilatation was mild in >90% of females 4
• Cardiovascular manifestations in adults with hEDS/HSD, especially females, are typically mild 4

When Baseline Echocardiography IS Indicated

Obtain baseline echocardiography if any of the following are present:

• Cardiac symptoms: chest pain, palpitations, dyspnea, syncope, or exercise intolerance 1, 3
• Family history of aortic dissection in first- or second-degree relatives 2
• Abnormal cardiac examination: murmur suggesting valvular disease, signs of heart failure, or irregular rhythm 1
• Suspicion for vascular EDS (type IV) rather than hypermobile/classical types 3
• Multiple affected family members with documented cardiac involvement 1

Important Clinical Pitfalls

Overdiagnosis of Mitral Valve Prolapse

Seven patients in the 1997 study had been previously diagnosed with MVP, but only two had true MVP using current echocardiographic criteria 3. This highlights the risk of overdiagnosis with older M-mode techniques or clinical examination alone 3.

Distinguishing EDS Subtypes

The older 1980 study showing high cardiovascular abnormality rates (35 cardiac/great vessel abnormalities in 19 hospitalized patients) 5 represents selection bias from hospitalized patients and predates modern EDS classification 5. These findings should not be extrapolated to asymptomatic outpatients with confirmed non-vascular EDS 2, 3.

Cardiac Symptoms Are Common But Non-Specific

In the 1997 study, cardiac symptoms were significantly more frequent in EDS patients than controls (atypical chest pain 48%, palpitations 39%, exertional dyspnea 30%) 3, yet objective cardiac abnormalities were not increased 3. Symptoms alone without examination findings do not mandate echocardiography in this population 3.

Practical Algorithm for the 40-Year-Old Patient

Step 1: Confirm EDS subtype is non-vascular (hypermobile or classical, not vascular type IV)

Step 2: Obtain detailed cardiac history:

• Any chest pain, palpitations, dyspnea, syncope, or exercise intolerance? 3
• Family history of aortic dissection or sudden cardiac death? 2

Step 3: Perform cardiovascular examination:

• Auscultate for murmurs suggesting valvular disease 1
• Assess for signs of heart failure or arrhythmia 1

Step 4:

• If history and examination are normal: No baseline echocardiography needed 2
• If any abnormality detected: Obtain baseline echocardiography 1

Surveillance Strategy If Baseline Echo Is Obtained

If echocardiography is performed and shows mild abnormalities (aortic root Z-score >2.0 but <3.0, mild MVP), the 2024 study demonstrates that serial Z-scores decline over time in hEDS 2. Follow the general cardiology guidelines for mild valve disease: repeat every 2-3 years if stable and asymptomatic 6.