Spotlight on children with heart disease

Scientists at the Sixth World Congress of Paediatric Cardiology and Cardiac Surgery, held this week in Cape Town, spoke of promising new developments in their field. “It is the best of times – we are achieving amazing new insights in cardiac development,” said Dudley Woodrow Benson, cardiology department researcher at Cincinnati Children's Hospital Medical Centre.

The congress, which is hosting over 2 400 delegates from around the world, is being held in Africa for the first time. Chairman of the organising committee, Christopher Hugo-Hamman, said that they were hoping the congress would raise awareness of the plight of children born with congenital heart disease (CHD) in developing countries who have limited access to medical treatment. He said that 80 out of 1 000, or almost 1%, of live births have CHD.

At a talk entitled “Emerging concepts in cardiac embryology in the 21st century”, Benson said that the post-genomic era was going well and that the development of induced pluripotent stem cells (iPSC) provided a new tool for the scientist and clinician. “The 1 000 Genomes Project has revolutionised our thinking of the human genome,” he said. “It shows the great variation of the human genome.”

But Benson said that challenges remain. “To date, new genetic taxonomy does not precisely align with clinical taxonomy used by anatomists, cardiologists and surgeons,” he commented. “Our capability to discover genetic variants has outpaced our ability to analyse them.

Chromosomal abnormalities

Benson said that there are overlapping elements when it comes to identifying the causes of and treating CHD, including human genetics, cardiac development and the new science of pluripotent stem cells. “The early teaching was that genetic causes were rare,” he said. “But subsequent studies have supported genetic origin above other reasons, such as environmental factors. There is a close association of CHD and other defects with chromosomal abnormalities.”

Despite the progress being made in this field, Benson said that most CHD causes remain unknown. Another speaker, Robert Anderson, a retired professor of paediatric cardiac morphology, said that until the 1990s, embryology was potentially a hindrance rather than a help, since concepts tended to originate from the armchair, rather than the workbench.

“Since then, the advances in genetic and molecular research have been amazing,” Anderson explained, but he cautioned that the challenge of embracing new ideas regarding embryology was to escape the old ones.

- (Press office of WCPCCS2013, February 2013)

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