research

Understanding the Aorta and
Why It Matters in Marfan Syndrome

The aorta is the largest blood vessel in the body. It carries oxygen-rich blood from the heartto the rest of your body. At the point where the aorta leaves the heart sits the aortic valve, which ensures blood flows in the correct direction and does not leak backwards.

The aortic root is the first part of the aorta and includes the aortic valve and the nearbysection of the vessel. This area is especially important in people with Marfan syndrome.

What Is an Aortic Aneurysm or Dissection?

The wall of the aorta is made up of three layers. In some conditions, including Marfan Syndrome, these layers can become weaker over time. When the aorta slowly stretches and enlarges, this is called an aortic aneurysm. If a tear develops in the inner layer of the aorta and blood forces its way between the layers, this is called an aortic dissection. This is a medical emergency. Aneurysms of the chest aorta often cause no symptoms at all, which is why they are sometimes called a “silent killer.” Problems usually only appear if the aorta tears or ruptures. This is why regular monitoring is so important in Marfan Syndrome. Some people are born with conditions that make their body’s tissues weaker, such as Marfan syndrome, Loeys–Dietz syndrome, or Ehlers–Danlos syndrome. These conditions increase the risk of aortic problems, but most people who develop thoracic aortic disease do not have one of these syndromes. Family history still plays an important role. Although these conditions can also occur in people without a known genetic condition, they are more common and occur at smaller aortic sizes in people with connective tissue disorders such as Marfan Syndrome.

When Is Surgery Needed?

Medicines can help slow down aortic enlargement, but they cannot completely prevent it. When it becomes too wide, the risk of tearing or rupture rises sharply. To reduce the risk of dissection or rupture, preventive surgery is recommended once the aorta reaches a certain size: . In the general population: usually around 5.0–5.5 cm . In people with Marfan syndrome: often earlier, around 4.0–4.5 cm

Traditional Surgery for the Aortic Root

The standard operation involves replacing the enlarged part of the aorta with an artificial tube. Sometimes the aortic valve also needs to be replaced. While this surgery is very effective, it is major open-heart surgery and can involve lifelong considerations, such as blood-thinning medication if a mechanical valve is used. A Newer, Less Invasive Option: PEARS In recent years, a less invasive option has become available for selected patients. During the Personalised External Aortic Root Support (PEARS) procedure, instead of removing the aorta, surgeons place a custom‑made soft mesh sleeve around the outside of the aorta. This mesh: . Is designed specifically for each patient using detailed imaging . Supports the aorta from the outside . Helps prevent further enlargement and reduces the risk of tearing . Preserves the patient’s own aortic valve The PEARS procedure was first performed in 2004, and over 1,500 patients worldwide have now undergone this operation.

How PEARS Was Developed

The idea for PEARS was first presented at a meeting of the British Marfan Association in London in 2000. The procedure was developed using advanced imaging and 3D computer modelling, allowing a perfectly fitted support to be created for each patient. Remarkably, the first person to receive the PEARS operation was its inventor, Tal Golesworthy, an engineer who also has Marfan syndrome. Research Supporting PEARS In 2021, our researcher team at Beacon Hospital began animal studies using rats to better understand how the supporting mesh interacts with the aorta over time. We found that: . Placing the mesh around the aorta was difficult but possible . The mesh was well tolerated by the body . It caused only a limited and stable tissue reaction . It did not stiffen the aorta excessively, which may allow the vessel to keep some natural flexibility . The mesh stayed mainly on the outer surface of the aorta, acting as a protective layer These findings suggest that PEARS may offer strong support while still allowing the aorta to function naturally.

Ongoing and Future Research

Animal research cannot perfectly replicate Marfan syndrome in humans, so results must always be interpreted carefully. However, these studies help us understand how the aorta behaves when supported externally and guide future improvements. There are no rat models that naturally have Marfan syndrome. To mimic a weakened aorta, researchers use chemicals that interfere with the normal strength of blood vessel tissue. These methods work best in young animals. Earlier attempts did not successfully cause the type of aortic disease needed for study. The research team has since improved the plan by: . Treating animals for longer periods . Monitoring blood pressure . Using advanced scans to watch the aorta change over time . The next phase of research is awaiting ethical and regulatory approval and is expected to last 6–7 months. Sharing Our Findings Our work has been presented internationally, including at: . The Academy of Surgical Research (USA) . The Surgical Research Society (UK) . The Hungarian Cardiac Surgery Society (Hungary) In Summary The aorta is vital but vulnerable in some people. PEARS offers a promising way to protect it earlier and less invasively than traditional surgery. Ongoing research aims to confirm how well this approach works and how it may prevent life‑threatening complications in the future.