Loeys-Dietz Syndrome
What is Loeys-Dietz 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. It is similar to Marfan syndrome.
Some children may have inherited the condition from a parent, whilst others are the first case in their family. At this time, there are believed to be 5 different types caused by mutations in 5 different genes (TGFBR1, TGBR2, SMAD3, TGF1 & TGF2).
Symptoms
Most children will have no symptoms. They may be noted to have characteristic facial features with a number of medical issues affecting the eye, joint, feet, palate and spine, chest wall deformities, skull bone premature fusion, easy bruising, stretch marks, translucent skin, gut and immune problems with food allergies.
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, sometimes with tortuosity. Localised enlargement of a part of a blood vessel is called an aneurysm. The aorta size must be monitored regularly in affected individuals as should the other major blood vessels.
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 which involves having a CT Scan or a MRI. In younger children, a MRI will require a general anaesthetic.
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.
Babies and children with a severe leak of the mitral valve may initially require treatment with medicines and surgery may be required to reduce the leak. Dr Naqvi works with an excellent team of NICOR audited congenital cardiac surgeons.
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. 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.
Prognosis
Regular monitoring and repeat scans are important as there is a risk of blood vessel spontaneous rupture. Dr Naqvi has cared for many babies and children with Loeys-Dietz syndrome and has followed them up until adulthood.
Dr Naqvi says: "As we learn more about the condition and recognise cardiac problems earlier, the future outlook for children with Loeys-Dietz continues to improve. Having Loeys-Dietz syndrome does not stop children doing well in sports or from having a happy active childhood. There are certain sports which are contraindicated, but many others such as swimming and golf are possible."
