Normally, in people with hypertrophic cardiomyopathy (HCM) – a condition that causes portions of the heart to get bigger without any obvious cause – the only way to see the structural changes in the heart is after a person has died. The condition is the number one cause of sudden cardiac death in young individuals. But a new scan technique could pick up signs that a person is at risk of suddenly dying from a hidden heart condition while they are still alive. Researchers from Oxford University developed the new technique, which uses microscopic imaging, to check for muscle fibre disarray. This is when abnormal fibre patterns occur in the heart, not allowing heartbeats to spread evenly across its muscle fibres, which can lead to potentially deadly heart rhythms. For the study – the findings of which are published in the Journal of the American College of Cardiology – the researchers scanned 50 patients with HCM and 30 healthy people. They were able to see disarray in the HCM patients’ muscle fibres – something that had never been witnessed before in living subjects. The scan technique, known as diffusion tensor magnetic resonance imaging, has, up until now, normally only been used on the brain, but scientific advances mean that it can now be used on the heart too. Dr Rina Ariga, study author and cardiologist at University of Oxford, said: “We're hopeful that this new scan will improve the way we identify high-risk patients, so that they can receive an implantable cardioverter defibrillator early to prevent sudden death.” Footballer Fabrice Muamba is one of the most famous people to be affected by HCM. He almost died after collapsing during a match in the UK. In fact, Muamba was technically dead for a staggering 78 minutes before regaining consciousness. At the time of the incident, Muamba was 23 years old and in his prime as an athlete.
Around 620,000 people in the UK are living with a faulty gene which places them at an increased risk of developing coronary heart disease or sudden death, a charity has warned. To make matters even worse, most of them are totally unaware. According to the British Heart Foundation (BHF), the number of people with the faulty gene hypertrophic cardiomyopathy (HCM) is 100,000 higher than originally thought and could be even higher still in reality. Every week in the UK, approximately 12 seemingly healthy individuals aged 35 or under suffer a sudden cardiac arrest with no explanation. The cause is predominantly undiagnosed heart conditions. The prevalence of inherited conditions is becoming better known, however, the charity warned that as yet undiscovered faulty genes and under-diagnoses mean the real scale is inevitably unknown. A child of someone who has an inherited heart condition has a 50% chance of inheriting it themselves too. Nevertheless, research has helped to uncover many of the faulty genes that cause inherited heart conditions and structured genetic testing services have been developed as a result. However, the medical director of the BHF, Prof Sir Nilesh Samani, said that more research is urgently needed. "If undetected and untreated, inherited heart conditions can be deadly and they continue to devastate families, often by taking away loved ones without warning. "We urgently need to fund more research to better understand these heart conditions, make more discoveries, develop new treatments and save more lives."
Cataracts account for more than half of all cases of blindness across the world. But now scientists have shown that a person's own stem cells can be used to regrow a 'living lens' in their eye. Published in the journal Nature, the research has been described as 'remarkable' by experts and is being lauded as one of the finest achievements in regenerative medicine. Surgeons successfully reversed blindness in 12 children born with congenital cataracts by activating stem cells in the eye to grow a new lens, negating the need for an implanted one. Within just three months, a clear, cataract-free lens had developed in all of the patients' eyes. "The success of this work represents a new approach in how new human tissue or organ can be regenerated and human disease can be treated, and may have a broad impact on regenerative therapies by harnessing the regenerative power of our own body," said Dr Kang Zhang, one of the researchers at UC San Diego School of Medicine. Dr Dusko Ilic, a reader in Stem Cell Science at King's College London, said: "This is one of the finest achievements in the field of regenerative medicine until now." The hope now is that the technique can be used to develop a way of treating older patients who are suffering with poor sight because of age-related cataracts. Cataract surgery is the most common procedure carried out in England, with around 300,000 patients operated on every single year.