Home > Genetic Heart Disease
Centenary Institute - Medical Research
Centenary Institute - Medical Research

The Conversation: An article by Dr Jessica Orchard

Cardiac arrests in young people — what causes them and can they be prevented or treated?

Dr Jessica Orchard, a Postdoctoral Fellow at the Centenary Institute and the University of Sydney has written an article for The Conversation following the dramatic collapse of Denmark’s Christian Eriksen when his heart stopped during a recent Euro 2021 football match.

She explains why cardiac arrests sometimes happen in young people, the risk factors and how they can be prevented.

“Cardiac arrests during sport are extremely rare. If you’re playing sport next weekend, you should go ahead in the knowledge it’s almost certain not to happen. The benefits of exercise far outweigh the risks,” said Dr Orchard.

“But because events like this do happen, albeit very rarely, we need public venues to have good emergency plans to improve survival, including the widespread availability of defibrillators.”

Importantly, Dr Orchard notes that anyone who has any worrying symptoms should seek medical advice, especially fainting or collapse during exercise.

Read the full article in The Conversation.

You can find out more about the Centenary Institute’s Molecular Cardiology Program and its world-leading research into better understanding, and ultimately treating and preventing, sudden cardiac death in young people here.

Sydney Morning Herald features Centenary cardiac research

Research from the Centenary Institute showing that genetic testing can help identify the cause of sudden cardiac arrest (SCA) in young people who seem to have a normal heart has been featured in the Sydney Morning Herald.

“These are young people – some in their teens and 20s – who on a particular day had a cardiac arrest and for so long we didn’t know what the reason was,” said Professor Chris Semsarian AM, Head of the Centenary Institute’s Agnes Ginges Centre for Molecular Cardiology and senior author on the research study.

“You can do every test under the sun and you don’t find anything wrong with their heart. It looks normal, but it carries genetic mistakes.”

In their study, the Centenary researchers identified a genetic cause of arrest in 22% of the SCA survivors examined. The majority of these newly identified cases had genetic abnormalities associated with cardiomyopathy.

Dr Julia Isbister also from the Centenary Institute’s Agnes Ginges Centre for Molecular Cardiology said, “What we have seen here is that there is perhaps more utility for patients with no clinically identified causes to have genetic testing, now that our knowledge of cardiac arrest and genetics has advanced and we can cast a wide [genetic testing] net to get answers for patients.”

Read the full SMH news story here.

Find out more about Professor Semsarian’s research program at the Centenary Institute here.

Q&A: COVID-19 and genetic heart disease

Professor Christopher Semsarian AM, Head of the Agnes Ginges Centre for Molecular Cardiology at the Centenary Institute and Dr Michael J. Ackerman, M.D. (Mayo Clinic) have jointly participated in a live Q&A session on the topic of COVID-19 and genetic heart disease.

Hosted by the Sudden Arrhythmia Death Syndromes (SADS) Foundation the live chat covered key advice relating to the SADS community and the developing coronavirus pandemic. Questions from members of the public were also answered by the two cardiovascular specialists.

A recording of the session can be viewed online at any time at the following link: https://youtu.be/GmG_3IwyOfQ

$3m to strengthen Centenary Institute research

World-class study into inherited heart disease as well as Alzheimer’s disease have been boosted after two Centenary Institute researchers successfully secured a total of $3m in highly competitive National Health and Medical Research Council (NHMRC) funding.

Associate Professor Jodie Ingles, Head of the Institute’s Clinical Cardiac Genetics Group in the Molecular Cardiology Program (pictured left), was awarded a Clinical Trials and Cohort Studies Grant in excess of $2m. This will fund a five-year study into inherited cardiomyopathies involving approximately 2,500 participants. The cohort of participants will be comprehensively investigated and followed over time, making this an extremely unique and important resource for better understanding these diseases.

“Inherited cardiomyopathies such as hypertrophic cardiomyopathy affect the heart muscle and are passed on genetically in families. There can be important health implications, including a risk of heart failure and sudden cardiac death,” says A/Prof Ingles.

“There are many aspects of how we manage and treat inherited cardiomyopathies that are not well understood. Our study will follow participants over time to gain critical clinical and genetic insights. In doing so, we can then provide tailored advice regarding management, treatments, prognosis and family screening regarding the disease,” she says.

Professor Jenny Gamble, Head of the Vascular Biology Program at the Centenary Institute was awarded an Ideas Grant of just under $1m. The grant will fund research into Alzheimer’s disease, the most common form of dementia. Supported by secondary Chief Investigator Doctor Ka Ka Ting also from the Centenary Institute, the research program will focus on the blood vessels of the brain and their potential role in Alzheimer’s development and progression.

“Alzheimer’s disease is an age-related neurodegenerative disease that is on the rise due to our ageing population. Although we don’t know yet what causes the disease it is thought that changes to the blood vessels in the brain are the earliest sign of Alzheimer’s and actually predispose the patient to the development of the disease,” says Professor Gamble.

“This grant will support our work on investigating the cells that form the barrier between the blood and the tissues, endothelial cells. We have identified significant age-related changes in these cells.  We want to determine if the breakdown and dysfunction of these cells with age actually leads to, or makes Alzheimer’s Disease more likely. If this is the case, our work will open the door to an entirely new approach to combatting the disease,” she says.

In addition to the two Grants, the Centenary Institute’s Laura Yeates received a NHMRC Postgraduate Scholarship for her study into ‘Caring for families affected by sudden cardiac death of a young relative due to genetic heart disease.’ Centenary’s Natalia Pinello also received a NHMRC Postgraduate Scholarship for her study into ‘RNA 5-hydroxymethylation in Haemopoiesis and Leukaemia.’

Read the full media release here.

SMH article – featuring A/Prof Jodie Ingles

Associate Professor Jodie Ingles leads our Clinical Cardiac Genetics Laboratory. She was interviewed for a cardiovascular focused health feature in the Sydney Morning Herald.

A/Prof Ingles wants to better understand unexplained cardiac arrest in young people – to help solve the mystery of why people such as Esther (featured in the article) suffer from heart problems at such a young age.

Read the Sydney Morning Herald feature here to find out more about Esther and the devastating impacts of heart disease.

And find out more about Jodie here.

Sydney Innovation and Research Symposium

Associate Professor Jodie Ingles, Head of Centenary Institute’s Clinical Cardiac Genetics Laboratory, in the Molecular Cardiology Program has made good use of her public speaking skills, presenting a talk on the impacts and consequences of cardiac genetic testing, as well as participating in the ‘Great Debate’ at today’s annual Sydney Innovation and Research Symposium.

Debating the topic, “Clinical systems and processes are more important than experience,” Jodie, a part of a team of three, successfully argued against the motion.

“My argument was that in 15 plus years of working with families with inherited heart diseases, that systems and processes have not existed, and so if we are to do the best we can for these families we need to carve our own path. We’ve done this always based on our significant experience in seeing so many families, and we use these experiences to help inform development of guidelines,” said Jodie.

The annual Symposium is Sydney Local Health District’s hallmark event to foster collaboration and innovation bringing together staff, clinicians, research and business partners, and industry experts to share ideas to help achieve excellence in health and healthcare for all.

Study reveals technology role in over-diagnosis of rare inherited heart disease

A new study led by Centenary’s Professor Chris Semsarian AM and Samantha Barrett-Ross from our Molecular Cardiology Program reveals the critical need for greater understanding into diagnosis of little known inherited heart disease.

In collaboration with Wiser Healthcare, Royal Prince Alfred Hospital and the University of Sydney, the study published today in the highest ranking international cardiovascular journal – European Heart Journal, has shown that the use of advanced imaging equipment is driving a significant increase in the diagnosis of a little known inherited heart disease in adults.

In a comprehensive systematic review of 55 studies of Left Ventricular Non-Compaction (LVNC), a rare form of heart disease, the authors of the study have found that an older heart test, echocardiography (which uses ultrasound) diagnosed the condition in 1% of hospital patients and healthy adults. But using a new cardiac MRI test, 15% of adults were reported to have the condition. In some studies, it was much higher, up to 40%, even in studies of large samples of well people.

Professor Semsarian, Head of Centenary’s Molecular Cardiology Program and a leading cardiologist at Royal Prince Alfred Hospital, says, “Finding evidence of heart disease in up to 40% of well adults raises significant questions. Many of the studies were done on well people with no symptoms or signs of heart disease, yet the cardiac MRI showed these abnormal results at alarming levels. This raises questions about the clinical utility of this particular diagnosis. It raises wider concerns too. For example, how should results from new, very sensitive tests be interpreted?”. The study highlights the impact of new technology on what appears to be massive over-diagnosis of the disease. It also provides new insights and guidance on more consistent and accurate diagnosis of LVNC in adults, to enable a reduction in the number of healthy people undergoing the stress of misdiagnosis, and cost and trauma of unnecessary treatment.

Radio Interview

Listen to the ABC RN Health Report interview with Centenary’s Professor Chris Semsarian AM and Samantha Barrett-Ross from our Molecular Cardiology Program.

Read the full media release.

See the published article in the European Heart Journal.

Spirit of a community raising funds to help save lives

Pictured above: The Melonheads Team which is made up of family and friends of Aaiden Bellingham. Earlier this year they all competed and raised funds in the annual Bellingham Cup (Melonhead was a nickname given to Aaiden by his Pop). 

Centenary’s Molecular Cardiology Program led by Professor Chris Semsarian AM, extend a huge thank you to all those involved with the recent Bellingham Cup held in honour of Aaiden Bellingham – a much loved young man who was sadly taken from his family and friends as a result of a sudden cardiac episode.

Our thoughts are always with Aaiden’s family and his friends and the Bellingham Cup is a not only a wonderful tribute to Aaiden, but an invaluable way to spread the word about the importance of medical research in the area of sudden cardiac death in the young.

Special mentions to Adrian, Aaiden’s dad for his drive and determination to raise awareness and funds for the Centenary Institute. To the UC Pumas FC and all from the Club who were involved with the event and the SES Belconnen Unit for enabling the Cup’s outstanding success.

On behalf of the Bellingham Cup and Centenary, a thank you to some of the supporters who contributed to the success of the day ACT Cancer Council, Gatorade, Bunnings Belconnen and Mars Wrigley.

The photographs of the event enable us to share with all our followers and supporters the spirit of the Bellingham Cup.

Congratulations to all involved. Thank you for the much needed funds raised from the Cup and we look forward to the 2020 event.

Read more about the Molecular Cardiology Program.

Associate Professor Jodie Ingles awarded NHMRC honour

Associate Professor Ingles has been awarded the highest-ranked NHMRC Career Development Fellowship in the Clinical Level 1 Category for her research, which focuses on better understanding the clinical, genetic and psychosocial aspects of inherited heart diseases.

Associate Professor Ingles is Head of the Clinical Cardiac Genetics Group in the Agnes Ginges Centre for Molecular Cardiology at Centenary. She is an Associate Professor in the Faculty of Medicine and Health, The University of Sydney, and cardiac genetic counsellor in the Department of Cardiology, Royal Prince Alfred Hospital, Sydney.

NHMRC Career Development Fellowships are incredibly competitive, with a success rate of just 13 per cent. Associate Professor Ingles says she feels incredibly privileged to have not only received a Fellowship, but to also have achieved the highest-ranking in her category.

“It’s like winning a ‘Golden Ticket’. Having this on my track record will hopefully place me in an even stronger position when I apply for grants and funding in future, which is the only way you can succeed as a medical researcher,” says Associate Professor Ingles.

Read the full media release here.

Learn more about Associate Professor Ingles’ research here.

Building the case for a closer look at known heart-disease genes

Centenary Institute scientists have conducted a study which could change how researchers discover the causes of genetic heart disease.

At the moment, the bulk of genetic testing focuses on the protein-coding sections of DNA to look for disease-causing variants. However, these protein-coding regions only make up about two-per-cent of our entire DNA sequence.

In a study published in scientific journal Circulation: Genomic and Precision Medicine, researchers in Centenary’s Molecular Cardiology Program screened 500 families affected by hypertrophic cardiomyopathy – a common genetic heart condition which occurs when the heart muscle thickens, making it difficult to pump blood.

The researchers focused on one of the main disease-causing genes, known as MYBPC3, and discovered they were able to attribute the cause of hypertrophic cardiomyopathy in four families to a variant found in the non-coding region of the DNA.

First-time Lead Author Emma Singer says while on the surface, it may appear to be a small breakthrough, it’s still important for patients affected by genetic heart disease.

“This study makes a major difference for those four families who otherwise would not have known the cause of their heart condition, which in some cases, can be fatal,” says Emma.

Senior Researcher Dr Richard Bagnall is hopeful the study will help re-direct the broader focus of genetic heart disease research.

“We would consider this a pilot study, so we are hoping our results will encourage other researchers to undertake a similar approach in larger cohorts of patients with other known disease-causing genes.

 “This study demonstrates why we need to be looking at the known genes more closely and more carefully – because we’re finding that we’re having a lot more success that way, rather than trying to find a new gene altogether that causes disease.”

Key value of RNA analysis of MYBPC3 splice site variants in hypertrophic cardiomyopathy has been published in the scientific journal Circulation: Genomic and Precision Medicine.

View the full media release as a PDF.

Learn more about Centenary’s Molecular Cardiology Program.