A medical student who was born with a genetic disorder has undergone pioneering surgery at Guy’s and St Thomas’ NHS Foundation Trust 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.”
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.
