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Largest genomic study of heart disease in children shows strong inherited risk

8 August 2016


A major new study into the causes of congenital heart disease (CHD) has found that children often inherit damaging genes from parents who appear to be healthy. Experts at the Trust took part in the international study, led by the Wellcome Trust Sanger Institute, which aimed to get a better understanding of the genetic causes of heart disease. 


The term congenital heart disease covers a range of heart conditions that babies are born with, some of which can be diagnosed while the baby is still in the womb. CHD affects around one per cent of the population and causes problems such as holes in the heart and a narrowing of arteries.


Consultant paediatric cardiologist and honorary reader at Imperial College, Dr Piers Daubeney, and research fellow and co-lead in cardiac morphology, Dr Karen McCarthy, worked with the international consortium for five years. Blood samples from young patients with CHD, as well as samples from their parents were collected. The child’s DNA was analysed to see if there were any genetic anomalies or variants. If an anomaly was found, the parents’ blood was then also tested and a comparison made between the two.  


One of the key findings of the research was that CHD patients often inherit gene variants that cause cardiac disease from apparently healthy parents. Previous thinking was that in a lot of cases, CHD was caused by spontaneous gene mutations rather than inherited. This research offers the first conclusive proof that a much higher percentage of CHD is caused by genes and passed down to children by their parents. The results of this research mean that in the future, doctors may be able to offer much clearer advice to families about the chances of a child being born with a congenital heart defect. 


Dr Daubeney said: “Being able to share global data was key to the success of this project, and allowed us to investigate the genetic origins of CHD using statistical evidence in a more thorough way than has previously been possible.


“Knowing that some of the causes of CHD are genes from healthy parents will help us design future research and expand our understanding of these diseases even further.”


Dr McCarthy added: “We would like to thank all the patients and their families who were involved in the research at Royal Brompton. Their continued support is vital to the clinicians and researchers and is really appreciated.”


Royal Brompton & Harefield NHS Foundation Trust is one of the largest CHD centres in the country. Clinical teams treat more than 10,000 patients each year with these diseases and many receive care from their first few days of life.


The adult programme encompasses a national and international tertiary referral centre providing highly specialised care for adolescents and adults with congenital heart disease.


The ACHD unit also serves as a major research facility for congenital heart disease and cardiac surgery and provides national and international specialised training for cardiologists, cardiothoracic surgeons and allied disciplines. Specialist international clinical fellows are an integral part of the unit and contribute to its worldwide reputation. 


The study, 'Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing' by Sifrim, Hitz et al, was published in the August edition of Nature Genetics.


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