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)