Scientists have determined possible genetic causes of a serious congenital heart condition, Tetralogy of Fallot (ToF). ToF is a complex condition with 4 specific structural abnormalities in the heart and, in most cases, the causes are unknown.
In the research funded by the British Heart Foundation, researchers at the University of Manchester analysed the DNA of 829 patients with ToF with the help of 7 UK children’s heart centres, and co-researchers in Belgium and Australia. They used a technique called 'whole exome sequencing' to study specific DNA regions of patients with ToF. They identified 2 genes, namely NOTCH1 and FLT4, linked to rare and damaging DNA changes in patients with ToF. The DNA alterations in these 2 genes accounted for 7% of the patients with ToF studied.
The authors call for further research to discover additional genes that may contribute to the development of ToF. This may eventually, help develop genetic tests for adults with ToF who are considering having children, to determine the likelihood of the offspring acquiring the condition.