Genetic disease research faces tall order

July 26, 1996

Identifying patients with Marfan's syndrome is the aim of research under way at the University Hospital of Wales in Cardiff. This genetic disease kills at least 30 to 40 young adults in Britain each year, and early detection is vital.

The disease is often symptomless but there are pointers: family members dying of heart disease in childhood or early adulthood; shortsightedness in childhood and a tendency to be very tall.

"Not all tall people have Marfan's syndrome," insists paediatric cardiologist Dr Graham Stuart. "But if you have the disease, the likelihood is that you will be very tall. Some sufferers are loose limbed and even double jointed, and such patients can be very sporty. Basketball players for example may have the disease."

Unless sufferers are identified and treated, their blood vessels could stretch with a result that the heart is enlarged, sometimes eventually bursting.

The Congenital Disease Centre has linked up with Sally Davies of the College of Medicine's Institute of Genetics to build up a database of vulnerable families in Wales. Already 100 children have been identified in South Wales and they are treated at clinics established in Cardiff and Swansea by the Congenital Heart Disease Centre.

The centre, which has just celebrated its fifth birthday, is unveiling a new detection system this month. It is also investigating the most successful methods of delivering oxygen to the tissues of babies in intensive care.

Most paediatric cardiac surgery takes place under the age of one, and such babies can be severely anaemic and their tissues deficient in oxygen. The centre is investigating whether new blood transfusion techniques would be beneficial.

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