A mom hopes research into the role of genes in heart defects will give families the answers they’re looking for.
Mum of three, Fay Murrish of Seaham, County Durham, has two children born with congenital heart defects.
Her six-year-old daughter Chanel was born with a rare condition called hypoplastic left heart syndrome, and had to undergo open heart surgery when she was just a minute old.
While her eldest son Chase, 11, was diagnosed with a leaky heart valve, a condition that was only detected after undergoing tests after Chanel’s surgery.
Now, research at the University of Newcastle will study how certain genes could cause abnormalities in heart blood vessels in babies.
Every day in the UK, around 13 babies are diagnosed with a congenital heart defect, a condition that develops in the womb before a baby is born. Some of these defects can be found in the large blood vessels surrounding the heart and normally require complicated operations to be repaired.
Although abnormalities in genes are often the underlying cause of a congenital heart defect, how these genes interact with tissue types near the heart is not well known.
Fay, 31, said: âIt is really important for families like ours, who have already been affected, to move forward in the future.
âWe have a baby girl with severe heart disease who was diagnosed before birth and has had four hearts open so far.
âDue to the severity of his condition, we had our boys tested, so we found out when our oldest was five that he had a leaky valve and a heart defect.
“It was never detected on any scan, it happened until five years old and probably into adulthood if nothing happened without even knowing it.”
Doctors told the family that Chase may never need surgery, or may need it in the future.
Fay, who also has an eight-year-old Cole, said: âIt was also a blow because I kept asking them to check in and I had it at the GP and they said everything was fine.
“I said I really wanted my boys to check up and we also lost four babies during the pregnancy. It made us think they also had a heart defect.”
Chase often has blue lips when he’s cold or swimming, Fay said, but probably wouldn’t have worried about that under normal circumstances.
She said: âIf it hadn’t been for Chanel, we would never have thought about it and we would never have known he would have had an illness.
âI think all of these things, especially the genetic side of whether they’re in your genes, makes families like ours even more curious, doesn’t it.
“Is he connected because of her, were the babies we lost maybe connected.”
“I hope if they find anything it might help these situations in the future.”
Researchers in Newcastle have received Â£ 110,000 from the British Heart Foundation to study genes found in a tissue called pharyngeal endoderm, which forms near where large blood vessels develop.
Scientists will use special lab tools to examine mouse tissue under a microscope, also extract its cells, and examine changes in the genes expressed in them.
In doing so, they hope to find out which genes are important for the formation and development of large blood vessels, and identify which ones could cause them defects.
The three-year project will be led by Dr Simon Bamforth of the Biosciences Institute at the University of Newcastle.
Dr Bamforth said: ‘Congenital heart disease is the most common cause of birth defects in babies born in the UK. The underlying causes of these defects are poorly understood, so research is needed to improve our understanding of the formation of large blood vessels in the early embryo.
âThis study aims to expand our current knowledge of how certain genes and tissues interact to control the development of major blood vessels in the heart, adding new information to this area of ââbiology.
âUnderstanding how these genes interact could pave the way for future screening for these genes. This could lead to future prevention and treatment of heart defects. “
Dr Noel Faherty, Senior Research Advisor at BHF, added: âThis research could provide us with vital answers about how certain genes and tissues interact to cause abnormalities in the large blood vessels of the heart. More research will then be needed before we can see how this translates to humans, but this study could be an important step in our understanding.
âWhat is worrying is that the ability of the BHF to fund crucial projects like this is threatened. The coronavirus has had a devastating impact on our fundraising. That is why, together with others medical research charities, we call on the government to commit to a life science charity partnership fund.This will ensure that the BHF and other medical research charities can continue to invest in the science that produces breakthroughs that save and improve lives.