Dr Naqvi is an expert in disorders of the aorta including Marfan syndrome in children. She is the Paediatric Aortopathy Marfan Lead at the Royal Brompton Hospital in Chelsea, London. She is an active member of the Pan London Aortopathy expert group and organises professional meetings on diseases of the aorta. She has also given an invited lecture at the national patient meeting for the Marfan Association at St George’s Hospital in London.
Normal Heart
Marfan syndrome – aortic dilatation
Marfan syndrome – mitral valve prolapse
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. Those affected often have long fingers, long limbs and are tall and thin.
Some children may have inherited the condition from a parent, whilst others are the first case in their family. Marfan syndrome is usually caused by mutations in the FBN1 gene which codes for a protein called fibrilin 1
Cardiac Symptoms
Most children will have no symptoms. They may be noted to be taller and slimmer than other children of their age and may have joint or eye problems. From a cardiac perspective, the majority have no symptoms during early childhood. However, their aorta may enlarge above the normal range. The aorta is the large blood tube which carries oxygenated red blood from the heart , around the body.
Children with the most severe form of Marfan syndrome (the neonatal type) may struggle from birth with breathlessness, sweating and poor weight gain due to severe leaks across their mitral valve (mitral regurgitation). There may be a significant worsening of these symptoms if they develop a respiratory infection. Dr Naqvi cares has a significant experience caring for patients with this form of the condition.
Diagnosis
Clinical examination may reveal a heart murmur if there is a leak across the mitral valve (mitral regurgitation). An echocardiogram will show any mitral regurgitation and will also give a measurement of the size of the aorta. An ECG will also be performed and often a chest X-ray.
If the aorta is found to be enlarged ongoing monitoring may involve detailed imaging of the whole aorta using a CT Scan or a MRI . An intravenous cannula may be required for these tests to allow contrast (dye) to be given to clearly image the aorta.
Treatment
Many children initially require no treatment. The treatment approach depends on whether there is a leaking mitral valve) and the size and growth of the aorta.
Babies and children with a severe leak of the mitral valve may initially require treatment with liquid medicines called diuretics, which make the work of the heart easier. Surgery may be required to reduce the leak. Dr Naqvi works with an excellent team of NICOR audited congenital cardiac surgeons and if needed will refer your child to the one who is best for your child’s heart.
It is not unusual for children with Marfan’s syndrome to have aorta’s which grow bigger than other children. In order to prevent or reduce this accelerated growth, oral medication is recommended. Dr Naqvi runs regular Marfan paediatric clinics and prescribes appropriate medication including beta blockers and lorsartan. If despite such treatment the aorta becomes too big then Dr Naqvi will refer your child to one of the experienced world renowned NICOR audited cardiac surgeons at The Royal Brompton Hospital.
Dr Naqvi will also monitor your child’s growth and should they seem to be becoming taller than they would like, she will refer to specialists who can intervene to limit final adult height.
Prognosis
The outlook for children with Marfan syndrome is very good in the vast majority of cases. Dr Naqvi has cared for many babies and children with Marfan syndrome and has followed them up until adulthood. She says “Having Marfan syndrome does not stop children doing well in sports or from having a happy full life.
There are certain sports which are contraindicated particularly those which could damage the chest or eyes e.g. contact sports. However, there are other sports which those affected with connective tissue disorders can participate in such as swimming, badminton, table tennis and golf. I know some who are in school teams and even a few competing at national level. I even know patients who have achieved top grades at GCSE despite having heart problems in childhood.” There are a number of well-known successful people who are reported to have or have had Marfan syndrome including actors, musicians and political leaders.
Dr Naqvi is also the author of an article for The Marfan Association Magazine.
Dr Naqvi at a Pan London Aortopathy meeting she organised. Pictured with Diane Rust (Chairman of the Marfan Association) and the Treasurer (Marian Mason)
For more information about Marfan syndrome please see the following links:
