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Major breakthrough in genetic causes for heart failure

For immediate release

16 February 2012



Study hailed as ‘beginning of the end’ for understanding inherited heart failure.


Experts at Royal Brompton Hospital and Imperial College London have pinpointed the gene responsible for one of the most common causes of inherited heart failure, using advanced DNA sequencing technology working at unprecedented speeds. Detailed genetic analysis of 300 heart patients, appears in research published today (Feb 15th) in a study being hailed as ‘the beginning of the end’ for unravelling the genetic causes of inherited heart failure.


Dilated cardiomyopathy (DCM) is one of the leading causes of heart failure, affecting more than 30,000 people in the UK. The condition often develops due to a genetic cause and leads to scarring of the heart wall and damage to the muscle. This causes the heart to become weakened and enlarged, preventing it from pumping efficiently. Many people with DCM are put on the transplant waiting list as it can offer a life-saving procedure for heart failure.


New research published in the international journal the New England Journal of Medicine[1] identifies the most common genetic cause of DCM to be related to the Titin gene, which appears in one in four of all patients with the condition. This more than doubles the number of cases for which a genetic cause can be identified. It means 50 per cent of all patients can be effectively screened and diagnosed for the condition, with testing also available to their family members to show whether they are affected.


The study is an international collaboration between teams at Royal Brompton, the National Heart and Lung Institute (NHLI) at Imperial College London, Harvard Medical School, in the United States and University of Trieste, in Italy. The team at Royal Brompton worked at the National Institute of Health Research (NIHR) Cardiovascular Biomedical Research Unit (BRU), which is run jointly with Imperial and is at the forefront of international research into the most challenging heart conditions.


Royal Brompton cardiologist Professor Dudley Pennell, is director of the cardiovascular BRU and professor of cardiology at Imperial. He said: “A diagnosis of DCM not only impacts on the individual patient but their family members as well, who may have to return to hospital for repeat testing to check if they also have the condition. By identifying Titin as the commonest genetic cause for hereditary DCM, we can now tell family members of affected patients once and for all if they are or are not affected. That will be a major reassurance for both patients and those closest to them.” 


Researchers used DNA sequencing to look at more than 300 people including patients from Harefield Hospital over one year. ‘Massive Parallel Sequencing’ technology allowed them to simultaneously read trillions of DNA letters, which are inside every gene of the human body, at record breaking speeds. Analysis which previously took months can be completed in days.


Professor Stuart Cook, director of the genetics laboratory in the BRU and professor of molecular and clinical cardiology at the Institute of Clinical Sciences, Imperial College London, said: “We have gone from a walking pace to working at the speed of light. The technology for gene sequencing has accelerated significantly and even a year ago it could have taken up to a year to analyse genes in one patient – in this study we could do this in two weeks.


“As a result of this, we discovered new mutations in the gene. Over the next five years we hope to go from identifying the genetic cause for inherited DCM in 50 per cent of patients to understanding the cause in the vast majority of patients. The results of this latest study will also help us to find new treatment targets for developing drugs for patients with heart failure.”


Christine Seidman, T.W. Smith professor of medicine & genetics and director, Brigham & Women's Cardiovascular Genetics Center, Harvard Medical School, said: “In addition to the immediate clinical opportunities such as gene-based diagnosis in DCM, this new knowledge will promote further research on heart failure.  By developing experimental models to enable discovery of the events triggered by Titin mutations, we are optimistic that multidisciplinary team will uncover new ways to effectively intervene so as to prevent the progression to heart failure. “ 


Professor Peter Weissberg, medical director at the British Heart Foundation (BHF), which part-funded this research, said: “This study marks the beginning of the end for the diagnosis of ‘idiopathic’ DCM. ‘Idiopathic’ DCM is a relatively common form of heart failure that runs in families and means ‘cause unknown’.


“This research has shown at least a quarter of people with ‘idiopathic’ DCM have a genetic mutation resulting in an abnormal form of Titin, which is an essential component of the heart’s pumping machinery. This has important implications for genetic testing of people at risk of DCM and, eventually, for the development of new drugs to treat heart failure.


“As more and more of the genes responsible for inherited cardiac conditions are being identified, it is essential that the NHS provides cascade genetic screening for ‘at risk’ family members. This gives the best chance of identifying those who are affected and offering treatment at an early stage.”


The cardiovascular BRU has leading facilities for cardiac imaging, interventional cardiology and genetics.  The ongoing research focuses on new diagnostics and treatments, aiming to increase understanding of heart function in people living with cardiomyopathy, arrhythmia, coronary heart disease and heart failure. Royal Brompton & Harefield won a grant of almost £20 million from the Government's National Institute for Health Research (NIHR), which will be shared between research in the heart and lungs. The international collaboration with Harvard is also supported by a $6 million grant from the Leducq Foundation.

Notes to editors:

·         Royal Brompton & Harefield NHS Foundation Trust is a national and international specialist heart and lung centre based in Chelsea, London and Harefield, Middlesex. The Trust helps patients from all age groups who have heart and lung problems and is the country's largest centre for the treatment of adult congenital heart disease.


·         About Imperial College London: Consistently rated amongst the world's best universities, Imperial College London is a science-based institution with a reputation for excellence in teaching and research that attracts 13,000 students and 6,000 staff of the highest international quality.


Since its foundation in 1907, Imperial's contributions to society have included the discovery of   penicillin, the development of holography and the foundations of fibre optics. This commitment to the application of research for the benefit of all continues today, with current focuses including interdisciplinary collaborations to improve global health, tackle climate change, develop sustainable sources of energy and address security challenges.


The National Heart and Lung Institute (NHLI) is part of the Faculty of Medicine at Imperial College London and is a leading international research centre for investigating the mechanisms underlying many chronic diseases within the cardiovascular and respiratory systems. Amongst other hospitals across London, the NHLI has close links to the Royal Brompton and Harefield NHS Foundation Trust, which was awarded two Biomedical Research Units (Cardiovascular and Respiratory) by the National Institute of Health Research (NIHR).


·         The National Institute for Health Research (NIHR) provides the framework through which the research staff and research infrastructure of the NHS in England is positioned, maintained and managed as a national research facility. The NIHR provides the NHS with the support and infrastructure it needs to conduct first-class research funded by the Government and its partners alongside high-quality patient care, education and training. Its aim is to support outstanding individuals (both leaders and collaborators), working in world-class facilities (both NHS and university), conducting leading-edge research focused on the needs of patients. For details visit http://www.nihr.ac.uk 


·         The British Heart Foundation (BHF) is the nation’s heart charity, dedicated to saving lives through pioneering research, patient care, campaigning for change and by providing vital information. But we urgently need help. We rely on donations of time and money to continue our life-saving work. Because together we can beat heart disease. For more information visit bhf.org.uk/pressoffice.



For further information, please contact:

Jessica Mangold,

Head of Media Relations

Royal Brompton & Harefield NHS Foundation Trust

Tel: 020 7351 8672 (Brompton), Tel: 01895 823 837 ext: 5038 (Harefield)

Mobile: 07866 536 345

Email: J.Mangold@rbht.nhs.uk



[1] New England Journal of Medicine. For details visit http://www.nejm.org/





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