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Research from Department of Physiology, Anatomy & Genetics provides new evidence that some cases of Congenital Heart Defect (CHD) may be caused by a combination of genetic and environmental factors.

Doctor examining a baby with stethoscope in clinic © Shutterstock

Congenital heart disease is a heart defect that a baby is born with. It is the most common type of birth defect, affecting 1 in 100 babies worldwide, with about 12 affected babies born each day in the UK. Untreated, more than half of these will die. Such defects occur because something goes wrong as the baby’s heart forms in the womb. This can be because of faulty genes inherited from the parents, or it can be caused by environmental factors affecting the mother during pregnancy.

Most research in this area over the past 20 years has focused on understanding the genetic causes of CHD. However, even though the latest genome sequencing technologies have identified mutations in over 100 genes that can cause CHD, still only 20-30% of cases can be explained genetics alone.

Read more (Department of Physiology, Anatomy & Genetics website)

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