Posted on Tuesday 30 October 2018
Sofi Berrisford had the PEARS procedure at St Thomas' Hospital this year.
A medical student who was born with a genetic disorder has undergone pioneering surgery to prevent potentially-fatal complications from the condition.
Sofi Berrisford, 26 from Poynton in Cheshire, had an innovative form of open heart surgery at St Thomas’ Hospital to fix a problem caused by Marfan syndrome. The connective tissue disorder, which affects around one in 3,000 people who are typically tall with long limbs, can lead to problems with eyes, joints and hearts.
The aorta can stretch in people with Marfan syndrome and gradually enlarge, risking a life-threatening rupture. If the aorta grows to a certain size, patients require open-heart surgery to replace or repair the vessel.
Earlier this year Sofi, who is studying medicine at the University of Leeds, was told that her aorta had grown to nearly 5cm in diameter and that she needed surgery. A healthy aorta has a diameter of around 2.5cm.
Sofi was able to have a new procedure known as PEARS (personalised external aortic root support). It involves fitting a personalised mesh sleeve over the enlarged aorta, supporting it so it does not grow any bigger and is unlikely to rupture.
Unlike conventional surgery, it can be carried out while the heart is beating so a heart-lung bypass machine which has a low risk of stroke is not needed, the procedure is quicker and there is less chance of needing to replace the valve on the affected part of the aorta. Traditionally patients have a mechanical valve replacement and then need to take the blood-thinning drug warfarin for life.
Sofi, who is 6ft 2ins, said: “I was diagnosed with Marfan syndrome at birth. There was a 50/50 chance I’d have it because my Dad Jim does – his was undiagnosed which led to him having an aortic dissection aged 18. He has had three open heart surgeries since then and needs warfarin.
“I have regular scans on my heart to check if my aorta has enlarged. It has always grown very slowly so it came as a shock when I was told in February that it had grown significantly in the last year and that I urgently needed to see a cardiothoracic surgeon. I always knew that heart surgery was on the cards but I didn’t realise it would be so soon.”
Sofi, who also has scoliosis (curvature) of the spine and severe osteoarthritis in her hips due to Marfan syndrome, had previously heard about PEARS from others with the condition and researched it online.
After seeing cardiothoracic surgeon Mr Conal Austin at St Thomas’, she decided to go ahead and had the surgery in July. Sofi said: “PEARS had a faster recovery time, less blood loss and a shorter operation time so it was a more attractive option. I was in hospital for about a week. The care at St Thomas’ was incredible, it was second to none.
“I’d told Mr Austin I wanted a small scar so he started the surgery in a slightly different position than he usually would do. It’s such a small, neat scar and I couldn’t have asked for anything better. It meant a lot that he took my views into account.
“My dad wishes that the PEARS procedure had been around when he was younger, but was very pleased that I’d been able to have it. We’re very close because of both having Marfan syndrome and have similar personalities. My parents liked Mr Austin because he had a good sense of humour which put us at ease. They knew I was in good hands.”
Sofi has now made a good recovery and recently went back to university, where she is in her fourth year. She decided to become a doctor after a long stay in hospital with pneumonia around six years ago.
She explained: “I have lots of experience of care and decided that’s what I wanted to do – I wanted to be on the doctors’ side as well being a patient. My experiences will help me to empathise with patients.”
Mr Austin said: “The PEARS technique has proven to be very successful since we started to offer it at Guy’s and St Thomas’ six years ago. Now we are one of the biggest centres for PEARS in the world and I have carried out some of the most complex cases. Many cardiothoracic surgeons still only offer conventional treatment but as patients like Sofi demonstrate, the PEARS procedure has considerable advantages for them.
“The chance of an aortic rupture for patients with Marfan syndrome goes up very quickly once the aorta gets bigger than 5cm in diameter which is why surgery is advocated. I would actually advocate surgery from 4cm for Marfan patients who have a relative with the condition who has required surgery on their aorta.
“It is wonderful that Sofi has made a good recovery and has returned to medical school. She can now live her life without worrying about her aorta getting bigger, or the side-effects of taking warfarin. Treating patients like Sofi in such an innovative, beneficial way is what makes my job so rewarding.”