Marfan Syndrome
What is Marfan Syndrome?
This is a genetic condition which affects connective tissue. Connective tissue is found in blood vessels, muscle, bone and ligaments, and internal organs giving strength and flexibility. Marfan syndrome is caused by a mutation in the FBN1 gene which tells the body how to make a protein called fibrillin-1.
Approximately 75% of children have inherited the condition from a parent, whilst 25% are the first case in their family. It is an autosomal dominant condition, meaning that children of an affected parent have a 50% chance of inheriting the condition themselves.
Symptoms
Most children will have no symptoms. They may be noted to have characteristic physical features with a number of medical issues affecting the eye, joint, feet, palate and spine, chest wall deformities and skull bone premature fusion.
From a cardiac perspective, the majority have no symptoms during early childhood. However, they have a propensity to develop important enlargement of blood vessels in their body. The aorta is the large blood tube which carries oxygenated red blood from the heart around the body, and the size of this must be monitored regularly.
Cardiac Diagnosis
Clinical examination may reveal a heart murmur if there is a leak across any of the heart valves such as the mitral valve (mitral regurgitation). In many children, clinical examination will be normal. An echocardiogram will show any mitral regurgitation if it is present, and importantly will give a measurement of the size of the aorta. An ECG will also be performed and often a chest X-ray.
All patients will require regular monitoring of the major blood vessels. In some cases, a CT Scan or a MRI may be required.
Cardiac Treatment
Some children may initially require no treatment but all require regular repeated monitoring. The treatment approach depends on whether there is a leaking mitral valve and the size and growth of the aorta.
In order to prevent or reduce accelerated growth of the aorta, oral medication is recommended. Dr Naqvi runs regular aortopathy paediatric clinics and prescribes appropriate medication including beta blockers and losartan.
Prognosis
The outlook for children with Marfan Syndrome continues to improve as we learn more about the condition and recognise cardiac problems earlier. Dr Naqvi has cared for many babies and children with Marfan syndrome and has followed them up until adulthood.
Dr Naqvi says: "Having Marfan syndrome does not stop children doing well in sports or from having a happy active childhood. While certain contact sports are contraindicated, there are many others like swimming, badminton, and golf that are possible."
