Marfan syndrome is a genetic disorder that affects the connective tissue in the body due to abnormalities in growth proteins.
About one in 3,000 people have the condition, including men and women of all races and ethnic groups. Three in four people inherit it from a parent with a genetic mutation.
Symptoms
Marfan syndrome can affect many different parts of the body including the heart, blood vessels, bones, joints and eyes. Some features – for example aortic enlargement – can be life-threatening. The lungs, skill and nervous system may also be affected.
A diagnosis is based on a physical examination, assessment of a person’s medical and family history and a genetic blood test.
Treatment
The treatment focuses on managing the symptoms and reducing the risk of complications.
Given that Marfan syndrome can cause serious heart and blood vessel problems, regular scans of the heart (an echocardiogram) and blood vessels (MRI scan) can detect complications.
Available treatments include:
Medications called beta-blockers or angiotensin-receptor blockers, which are often prescribed to help protect the blood vessels. These drugs reduce blood pressure and the strain on the blood vessels.
If the doctor feels it is appropriate, heart surgery is an option to limit the risk of more problems developing. The most common type of operation is to replace the enlarged section of the aorta blood vessel. This reduces the risk of the blood vessels tearing (a dissection).
Our team of surgeons, physicians and specialist radiologists work together to diagnose, screen and treat patients from childhood to extreme old age, who have an aortopathy (any disease of the aorta).
Some of these aortic diseases are directly related to abnormalities of the aortic valve.
The Trust’s team includes:
Cardiac surgery
Professor John Pepper, consultant cardiac surgeon and academic lead
Mr Ulrich Rosendahl, consultant cardiac surgeon and clinical lead for the aortic service
Mr Darryl Shore, consultant cardiac surgeon (ACHD)
Mr George Asimakopoulos, consultant cardiac surgeon
Mr Jullien Gaer, consultant cardiac surgeon
Mr Toufan Bahrami, consultant cardiac surgeon
Mr Sunil K. Bhudia, consultant cardiac surgeon
Mr Cesare Quarto, consultant cardiac surgeon
Vascular surgery
Professor Nick Cheshire
Mr Maziar Mireskandari
Cardiology
Professor Christoph Nienaber, cardiologist and interventional cardiovascular physician
Dr Lorna Swan, consultant cardiologist
Dr Ali Vazir, consultant cardiologist
Imaging and radiology
Dr Michael Rubens, consultant radiologist (CT)
Dr Saeed Mirsadraee, consultant radiologist (CT)
Dr Simon Padley, consultant radiologist (CT)
Professor Raad Mohiaddin, consultant radiologist (CT)
Genetics
Dr Anand Saggar, clinical geneticist