Vessel time-bomb killing children

Genetic mutations cause the syndrome

Children are dying from a condition that could be treated surgically if it is spotted early, warn US doctors.

The root of the problem is abnormal blood vessels, particularly the main artery leading from the heart - the aorta - which can rupture.

Those at risk have physical traits that could help doctors identify them, the Johns Hopkins researchers said.

UK heart experts said the study should not cause alarm, and the syndrome is likely to be rare.

Physical traits

Typically, children with the condition have widely spaced eyes, a cleft palate or a split in their uvula - the tissue that hangs down in the back of the throat - as well as the blood vessel abnormalities, called aneurysms.

It is too soon to know how common or rare the syndrome might be. Researcher Dr Harry Dietz

These traits, passed on by genes, can vary in severity.

Some other abnormalities, including heart and brain defects, are seen in some patients.

Johns Hopkins University researcher Dr Harry Dietz, who is an expert on another genetic condition that can cause aortic aneurysms, called Marfan syndrome, said the new syndrome was distinct from any other he had seen.

"It's surprising that a syndrome with this many outward features escaped notice until now, but we know it exists. It's crucial that doctors look for it," he said.

He said in children with the new syndrome, the aorta ruptures much sooner than one would expect.

Treat early

"Patients need to be identified and treated much sooner than is standard medical practice for other causes of aortic aneurysms," he said.

His team successfully treated one 18-month-old girl whose aorta had swollen to 4cm in diameter.

Typically these aneurysms are not treated until they reach 5cm, he said. Sadly, another patient with the syndrome died before her condition was diagnosed. Her aneurysm measured 4cm.

The syndrome runs in families, but the syndrome-causing mutations have also been found in patients whose parents were not affected.

"It is too soon to know how common or rare the syndrome might be, but we know that surgery to fix the aneurysm works if patients are identified in time," said Dr Dietz.

The research is published in the journal Nature Genetics.

Professor Peter Weissberg, medical director of the British Heart Foundation, said the study should not in any way alarm people who recognise these physical traits in themselves or their children.

"It is a rare condition and other physical factors point to the diagnosis, so that widespread genetic testing would not be appropriate.

"The study's value lies in the insights it provides into why some patients are at risk of developing aneurysms of their aorta in early life, or even in later life."