Ehlers-Danlos syndromes and Aortic Dilatation: What You Need to Know

What is Aortic Dilation? In order to understand this, first, let’s talk about what is aorta. The aorta is the main artery that takes blood from your heart to carry through the rest of the body. It is the largest artery in the body. When the diameter of a blood vessel become wider than it should be it can bulge outward causing a dilation. There are different causes causes for aortic dilation including hypertension, smoking, infections and genetic disorders, but in this blogpost we will focus on the mechanism related to EDS.

Prevelance of aortic dilation in cEDS and hEDS together is 28%, which is higher when we compare with the general population. It is believed that the underlying connective tissue defect in EDS leads to structural abnormalities in the aortic wall, which can cause weakening and stretching of the aortic root. Fortunately, for the more common conditions of HSD/hEDS, recent studies show the prevalence of aortic dilation appears to be the same as the general population.

The diagnosis of aortic root dilation in EDS patients is typically performed using noninvasive imaging techniques such as echocardiography (ECHO), computed tomography (CT), or magnetic resonance imaging (MRI). Echocardiography is the most commonly used imaging modality for screening and surveillance of aortic root dilation in EDS patients.

Aortic dilation is a condition that can develop silently, but can be dangerous if it leads to dissection or aneurym rupture. Because of that we recommend our EDS patients to complete a full medical evaluation to include reviewing family history, medical history and a cardiac exam. It is also important to eliminate risk factors such as high blood pressure and smoking cessation. Take a look at our previous primary care blog post Primary Care and EDS for more information on routine care for hEDS/HSD.