From the Guidelines
For patients with Ehlers-Danlos syndrome, transthoracic echocardiography (TTE) should be performed at least annually, with more frequent monitoring recommended for those with additional risk factors or aortic root diameter ≥45 mm, as suggested by the 2024 ESC guidelines for the management of peripheral arterial and aortic diseases 1. The frequency of TTE in patients with Ehlers-Danlos syndrome can be guided by the recommendations for vascular imaging in Marfan syndrome, which share similar cardiovascular risks.
- Key considerations for TTE frequency include:
- Aortic root diameter: patients with a diameter <45 mm may require annual TTE, while those with a diameter ≥45 mm may need more frequent monitoring, every 6-12 months 1.
- Presence of additional risk factors: patients with risk factors such as family history of sudden cardiac death, previous aortic surgery, or cardiac abnormalities may require more frequent TTE, every 6 months 1.
- Type of Ehlers-Danlos syndrome: patients with vascular type (vEDS) or classical type with cardiac involvement may require more frequent monitoring, typically annually, due to higher risk of aortic and cardiac complications. The purpose of regular echocardiographic monitoring is to detect and track potential complications such as aortic root dilation, aortic aneurysms, mitral valve prolapse, and other valvular abnormalities that are common in Ehlers-Danlos syndrome, allowing for timely intervention and management to prevent more serious outcomes like aortic dissection.
- Other imaging modalities, such as cardiac magnetic resonance (CMR) or computed tomography (CCT), may be recommended for complete peripheral vascular and thoracoabdominal aorta imaging, particularly in patients without previous aortic surgery, at the first evaluation and subsequently every 3-5 years if stable 1.
From the Research
Ethylene Danolos Syndrome and Transthoracic Echo Frequency
- The frequency of transthoracic echo in patients with Ethylene Danolos syndrome, also known as Ehlers-Danlos syndrome (EDS), is not strictly defined, but several studies provide insights into the cardiovascular manifestations of the condition and the role of echocardiography in its management.
- A study from 2006 2 found altered echocardiographic parameters in 24 out of 38 patients with hypermobile and classical EDS, including mildly dilated aortic root, abnormal pouching of the sinuses of Valsalva, and mitral, tricuspid, or aortic regurgitation.
- Another study from 2018 3 suggested that routine echocardiograms to assess for valvular diseases and aortic root dilation may not be necessary unless warranted by the presence of symptoms or family history, as the prevalence of mitral valve prolapse and aortic root dilation was found to be lower than expected.
- An earlier study from 1980 4 highlighted the importance of careful cardiovascular evaluation in patients with types I and III EDS, given the high prevalence of cardiovascular abnormalities, including mitral valve prolapse, tricuspid valve prolapse, and dilatation of the aortic root.
- A more recent study from 2024 5 proposed that echocardiography may not be required in patients with hypermobile EDS in the absence of other cardiac findings or suspicion for another disorder, as the aortic root dilation rate was found to be likely not different from the general population.
- Another study from 2022 6 found that cardiovascular manifestations in adults with hypermobile EDS or hypermobility spectrum disorders are typically mild and readily assessed by echocardiography, and suggested that ongoing surveillance may be necessary to monitor for progressive dilatation in patients with aortic dilatation at baseline.
Recommendations for Transthoracic Echo
- Based on the available evidence, the frequency of transthoracic echo in patients with Ethylene Danolos syndrome may depend on the presence of symptoms, family history, and other cardiac findings.
- Patients with hypermobile EDS or hypermobility spectrum disorders may require ongoing surveillance with echocardiography to monitor for progressive dilatation if aortic dilatation is present at baseline 6.
- However, routine echocardiograms may not be necessary in asymptomatic patients without a family history of cardiovascular disease or other cardiac findings 3, 5.