Australian Genetic Heart Disease Registry

Some exciting new research to share!

Do you live in New South Wales and have an inherited cardiomyopathy?
NSW HEARTS: The NSW Inherited Cardiomyopathy Cohort Study is a study seeking to collect information on over 3000 adults with inherited cardiomyopathies. We are hoping to gain clinical and genetic insights that will improve the way we care for these people and their families.
If you are interested or want to learn more, you can get in contact by:
1. Filling out an expression of interest form https://redcap.gimr.garvan.org.au/surveys/?s=RMAHATLM3N94PLX7 or
2. Heading to our website: www.nswhearts.org.au or
3. Email us at [email protected]

This study has been approved by the Sydney Local Health District Human Research Ethics Committee. Any person with concerns or complaints about the conduct of this study should contact the Executive Officer on 02 9515 6766 and quote protocol number X20-0450

Thanks! A/Prof Jodie Ingles

Do you have an implantable cardioverter defibrillator (ICD)?

Join our friends at the Royal North Shore Hospital (RNSH) ICD Support Group Meeting for their next meeting on ICDs in the young athletic patient.

Wednesday 11th May 2022 - 1-2pm

Presenter: Dr David Whalley (Cardiologist, RNSH).

To register click this link https://us02web.zoom.us/meeting/register/tZAqceGpqDgqEt0_VZ63qRMRo1fobPi-884i

Any questions contact Ann Kirkness ph: 94631701 or email: [email protected]

Welcome! You are invited to join a meeting: ICD Group Meeting. After registering, you will receive a confirmation email about joining the meeting. Welcome! You are invited to join a meeting: ICD Group Meeting. After registering, you will receive a confirmation email about joining the meeting.

Registries are a great way to learn more about the conditions they are focused on. If we just have one or two patients we don't learn very much, but with thousands we learn so much more! Great to hear about the work of our colleague Prof Celermajer and thanks for the plug for the Australian Genetic Heart Disease Registry too! If you want to find out more about our registry, head to our website www.heartregistry.org.au

It's Valentine's Day and we love love. But more than that, we love healthy hearts.
Did you know that in 1950, almost every child born with structural abnormalities in their heart, aorta or other large blood vessels (known as congenital heart disease), died from their condition?
In 1975, about half died.
By 2020, that had dropped to fewer than five per cent.
“What an extraordinary revolution, says Professor David Celermajer, RPA’s Director of Adult Congenital Heart Services.
“There are very few examples in medicine of such tremendous advances in the past few decades. Conditions that were once fatal are now treated as chronic. Advances in medicine and technology mean there are now more adults with congenital heart disease in Australia than children,” Professor Celermajer said.
“There’s a big new population of adults with congenital heart disease that need life-long care. Some of them have just one pump in their heart, rather than two. Some have an ‘upside down heart’ or a ‘back-to-front’ heart. The challenge ahead is about how to best provide the complex, specialist medical care they need, plus emotional and social support, throughout their whole-of-life journey as adults.”
To that end, Professor Celermajer is leading a project setting up a national registry of every child and adult with congenital heart disease in Australia, to document its prevalence, the burden of disease and clinical outcomes.
“It will include more than 50,000 people from every state and territory and will be invaluable to patients, families, healthcare providers and governments,” he said.
RPA and the Centenary Institute already run the Australian Genetic Heart Disease registry for people with inherited cardiomyopathies and rhythm disorders, with more than 2800 patients listed.

Share your thoughts on family communication!
Researchers at the Massachusetts General Hospital (MGH) Institute of Health Professions, USA are doing a research study to learn more about how East Asian adults with inherited arrhythmia conditions communicate health information with family members. The survey should take about 15 minutes to complete. While there is no direct benefit to you from this study, we hope the results will improve health care providers’ understanding about how to best support family communication in East Asian families. If you are East Asian, over 18 years old, and have an inherited arrhythmia condition, you are eligible to complete the survey! Thank you so much for consideration!

Please click the link to learn more and complete the survey. If you have questions regarding this study, you may contact [email protected]

https://redcap.partners.org/redcap/surveys/?s=WMEMJM4WKN

Influence of COVID-19 and related restrictions on people with cardiovascular disease

Australian COVID-19 prevention strategy and policies have averted many infections but may have caused unintended harm, particularly in people with cardiovascular disease.

Researchers from the University of Sydney are conducting an online survey to examine current and possible longer-term impacts of the pandemic and social restriction policies from the perspectives of people who live with heart conditions. The information will help us better understand the impact of COVID-19, policies and social restrictions, which will enable us to better reshape the way we care for people with cardiovascular disease. We have obtained ethics approval from the University of Sydney (project number 2021.031).

As a token of appreciation, three participants who complete this survey will each receive a $50 gift card via a lucky draw.

The survey is available via this http://bit.ly/2VYuuJY or by using the QR code below.

Opportunity to complete survey about life insurance and genetic testing.

Many people are concerned about the use of genetic information by life insurers. Researchers from Monash University are keen to understand the views and experiences of consumers. This includes people who have had genetic testing as well as people who are eligible, but choose not to have genetic testing.

The findings of this research will contribute to a report to the Australian government regarding the current regulation of life insurers, and your participation will assist with gathering critical data on the views and experience of consumers.

Please consider completing this important survey, whatever experience you have had with life insurance and genetic testing.

You can remain anonymous if you wish.

Please also consider forwarding this survey link to your family members who may have had or considered having a test.

You can access the survey here: https://redcap.link/aglimmer.consumer.
At the beginning you will find more information about the study and an explanatory statement.

For any queries regarding this research, please contact the research coordinator, Jane Tiller, on [email protected].

Genetic testing and life insurance If you live outside of Australia and would like to share your story with an international team of researchers interested to hear about genetic discrimination, you may click here to visit the Genetic Discrimination Observatory

Do you have an Implantable Cardioverter Defibrillator (ICD)?

The ICD Support Group at Royal North Shore would like to invite you to their next online seminar on "Building resilience and thriving in life".

Wednesday 24th November 12:30pm - 1:30pm.

More details via the link below.

https://www.heartregistry.org.au/2021/11/icd-support-group-meeting-building-resilience-and-thriving-in-life/

Picture description: silhouette of man jumping with blue sunny sky in the background

As social distancing restrictions begin to be eased around the country – it’s important we all remain vigilant in following the social distancing rules. We’ve provided a one stop shop for tips and links to some helpful websites. Stay safe! After all, we’re all in this together, Laura and the Registry team. 💙

http://www.heartregistry.org.au/2020/05/covid-19-and-genetic-heart-disease/

For those who missed the Q and A on genetic heart diseases and covid19, the recording can be found here! Hopefully it answers some of your questions! Cheers, Prof Chris https://protect-au.mimecast.com/s/EPZvC1WLPxcO0DB9TXkPvO?domain=youtube.com

Ask the Experts: Dr. Christopher Semsarian and Dr. Michael J. Ackerman Dr. Christopher Semsarian at the University of Sydney, Australia and Michael Ackerman at Mayo Clinic available to discuss and answer questions about SADS con...

Dear All. Hope everyone is staying healthy and safe during these challenging times! We have adapted to the current situation, and trying to maintain our high standards of caring for our patients! For those interested and awake at *720am this Tuesday April 21*, I have been asked to participate in an international Q and A session on inherited heart diseases, covid19, and anything else... with my colleague Dr Mike Ackerman from the Mayo Clinic, USA! The session is being hosted by The SADS Foundation. All welcome. Take care everyone, Prof Chris and team!

Some exciting news from us! A/Prof Jodie Ingles was awarded a very competitive 5 year National Health and Medical Research Council - NHMRC grant to develop an Inherited Cardiomyopathy Cohort Study. This will recruit individuals in NSW over 2020 and 2021 with inherited cardiomyopathies, and follow them through time. These type of data provide very powerful ways of understanding more about these diseases and will become a valuable resource for future research. We are also excited to share that Laura Yeates received a very prestigious co-funded National Health and Medical Research Council - NHMRC and Heart Foundation PhD scholarship and will commence this in Jan 2020. We can’t thank you all enough for all of your ongoing support of our work! Jodie and the team

$3m to strengthen Centenary Institute research | Centenary Institute World-class study into inherited heart disease as well as Alzheimer’s disease have been boosted after two Centenary Institute researchers successfullyREAD MORE

Mental health is just as important as physical health but is often neglected. Find out more about mental health and particularly how to get help from our new fact sheet written by Kristie McDonald (Master of Clinical Psychology).
http://www.heartregistry.org.au/2019/03/mental-health/

Mental Health - Australian Genetic Heart Disease Registry Mental health is just as important as physical health and is often neglected. You can find out more about mental health and how to get help from our new fact sheet written by Kristie McDonald (Master of Clinical Psychology) and the Molecular Cardiology Program found here

Dear All. I was recently interviewed about the impact of genomics on healthcare and improving patients lives and their families. It’s 4 minutes of your lives you’ll never have back 😊 Enjoy, Prof Chris
https://protect-au.mimecast.com/s/-qPvC6X13RtEGn5xCpZ59I?domain=youtu.be

Clinical Perspectives on Genomics: Prof Chris Semsarian Prof Chris Semsarian, a cardiologist, discusses how he uses genomic testing in his practice.

Our Richard Bagnall tells Research Australia's INSPIRE magazine all about his latest research using genome sequencing in HCM. This study found that genome sequencing improves the genetic testing pick up rate by up to 20% Check out the article on page 68 via the link below. Laura :) Centenary Institute Australia

https://researchaustralia.org/inspire-magazine/

INSPIRE Magazine - RESEARCH AUSTRALIA INSPIRE magazine Welcome to the tenth edition of INSPIRE Magazine. The health and medical research online magazine that is written by the sector for the sector. Click on the image below to flick through the magazine or click the [ ] icon to view it full screen alternatively download the PDF to your....

A BIG ❤️THANK YOU❤️ to all who attended the Patient Day on Saturday. Was a fantastic day of learning and I hope everyone found it helpful for their knowledge and understanding of genetic heart diseases, and how research gives answers! Everything we do seeks to ultimately improve the care of our patients and their families. Prof Chris and the team!

ONE WEEK AND A DAY TO GO!!! Our Genetic Heart Disease Patient Information Day is almost here!! Join us on Saturday 8th September! Hear some great talks and meet others with similar conditions. There'll also be a Q and A with our expert panel. The day also includes the AGM for the members of Cardiomyopathy Australia
Friends and family welcome! Please RSVP by Monday 3rd September. Full program and link to registration is below. Happy Friday!! Laura :)

http://www.heartregistry.org.au/2018/06/genetic-heart-disease-patient-information-day-2018/

ONLY 3 WEEKS TO GO!!!
Join us on Saturday 8th September in Sydney for our patient information day! Hear about the latest in genetic heart disease and meet other families. The day includes the AGM of Cardiomyopathy Australia More details on the link below. We hope to see you there!! Laura

http://www.heartregistry.org.au/2018/06/genetic-heart-disease-patient-information-day-2018/

Genetic Heart Disease Patient Information Day 2018 - Australian Genetic Heart Disease Registry

ONE MONTH TO GO!!
Please join us on Saturday 8th September for our Patient Information Day! Hear the latest on genetic heart disease, meet other patients/ families, the day includes a Q and A session with our expert panel! This year we're also teaming up with our friends at Cardiomyopathy Australia so the day will also include an AGM for their members.
There's no cost but RSVP is essential. Please head to our website for more information. We hope to see you there! Laura :)
http://www.heartregistry.org.au/2018/06/genetic-heart-disease-patient-information-day-2018/

heartregistry.org.au The Genetic Heart Disease (GHD) Clinic at Royal Prince Alfred Hospital is pleased to welcome you to our patient information day on Saturday 8th September, 2018.

The Medical Journal of Australia

One of our latest studies published in the Medical Journal of Australia looking at the number of implantable cardioverter defibrillator procedures in Australia since 2002. We show quite a steep increase in the number of implantations, particularly in those older than 70 years of age. Also only 20% of those getting an ICD are women. We do believe a balanced discussion between the clinician and patient is important when deciding to have an ICD, and we are working on ways to better support this! Jodie

Implantable cardioverter–defibrillator therapy in Australia, 2002–2015 ... research ... "ICD procedures are becoming more frequent in Australia, particularly in people aged 70 or more." https://www.mja.com.au/journal/2018/209/3/implantable-cardioverter-defibrillator-therapy-australia-2002-2015

Genetic Heart Disease Patient Information Day 2018 - Australian Genetic Heart Disease Registry

REGISTRATION NOW OPEN for our Patient Information Day! Want to find out more about Genetic Heart Disease? Or perhaps just meet others with the same condition. Then join our team on Saturday 8th September! Friends and family welcome! This year we're teaming up with our friends at Cardiomyopathy Australia so the day will include an Annual General Meeting for their members. More details on our website. Happy Friday! Laura :)
http://www.heartregistry.org.au/2018/06/genetic-heart-disease-patient-information-day-2018/

heartregistry.org.au The Genetic Heart Disease (GHD) Clinic at Royal Prince Alfred Hospital is pleased to welcome you to our patient information day on Saturday 8th September, 2018.

Some great news for cardiovascular research this morning with NSW govt announcing $150 million to cardiovascular research in NSW! Our patients and their families will be the beneficiaries as we improve how we diagnose, treat, prevent, and maybe cure genetic heart diseases. Honoured to have played a small role in lobbying for this funding on behalf of all of you! Sincerely, Chris

Do you have hypertrophic cardiomyopathy (HCM)? Would you be willing to participate in a survey study being carried out by colleagues at Yale University on the safety of thrill-seeking activities (e.g. roller coasters, sky diving etc)? The study includes an anonymous online survey. If you’d like to participate please send us an email to [email protected] Best wishes, Jodie

SAVE THE DATE!! We're pleased to announce our next patient information day will be on Saturday 8th September in Sydney!
The day will have lots of great talks on the latest in genetic heart disease! This year we're teaming up with Cardiomyopathy Australia so the day also includes the AGM for their members. Mark it in your diary! More details to come. Happy Friday! Laura :)

Young ICD Network Meeting 2018 - Australian Genetic Heart Disease Registry

For those in Sydney, the Young ICD Network Meeting is coming up on Thursday 1st of March at Royal North Shore Hospital. The focus of this meeting is genetic heart disease with talks from our own Prof Chris Semsarian and Laura Yeates. More details via the link below.

http://www.heartregistry.org.au/2018/02/young-icd-network-meeting-2018/

heartregistry.org.au If you are young (less than 50 years) or young at heart and have an ICD, you and your family are invited to be a part of the Young ICD network. The aim of this group is to provide support, education and the opportunity to meet and connect with other young ICD recipients.

Thank You and Happy Holidays! Just a brief note to say thanks to all for your support of the Registry and the work we do. We’ve had a great year in many ways, all to improve the care of our families with genetic heart disease. Have a happy, healthy and and safe Xmas and 2017! Prof Chris and Team xx

Support research into the genetic causes of heart disease

Supporting our Research! The University of Sydney has established a Crowdfunding Page to support our research in genetic heart disease and sudden death in the young. We need research funding to support our lifesaving work to develop new diagnostic, treatment and prevention strategies, and even develop cures, for genetic heart diseases. Details below and thank you for your support! Happy Weekend, Prof Chris and Team
https://crowdfunding.sydney.edu.au/heartdiseaseresearch

crowdfunding.sydney.edu.au The University of Sydney, Support research into the genetic causes of heart disease - Make a Gift today!

Congratulations to our Dr Richard Bagnall who was awarded the inaugural Centenary Institute Australia Future Leader Fellowship to study the genetics of sudden cardiac death! Prof Chris and Jodie

Human of Medical Research December: Dr Richard Bagnall

Dr Richard Bagnall works with the Molecular Cardiology Laboratory which investigates the causes of cardiovascular disease in order to uncover better, more targeted treatments and cures for a disease which is one of Australia’s biggest killers.

In a current project, Richard is looking for genetic variants which cause inherited heart disease. He uses high performance computers to analyze large volumes of genetic information. Richard and his team then validate the findings in the laboratory with various practical hands-on techniques.

Richard is truly passionate about his work, “Human genetics research is exhilarating. We are in a unique time where it is now possible to read the entire genetic sequence of a person in just six weeks. Every day I learn something new that helps our research into the causes of inherited heart diseases and sudden cardiac death in the young” he says. The team is finding new ways that genetic variants impact on our health and new genes which cause inherited heart diseases. This research could lead to better treatments and even cures for genetic heart disease.

Richard is not one to shy away from a challenge of any kind- in the lab and outside of it. His methods of relaxing are certainly novel! “This weekend I am participating in a 16-kilometer obstacle course - in mud. I will be forming human pyramids to scale high walls, throwing myself into iced water, wading through chest-deep mud, and trying to avoid electrified wires.” Richard believes it’s important to stay active when you spend a lot of time at a desk or bench at work.

Something many of his colleagues and friends may not know about Richard is, he used to be a DJ! “To make ends meet as a PhD student, I was a resident DJ at a nightclub in London.” Richard is a groovy dad who shares his passions with his kids, “I have two young daughters and both have inherited my love of the natural world. They both enjoy trying to catch bugs or lizards in our garden and exploring the rock pools at Toowoon bay on the Central Coast.”

Research Excellence Recognition!! Wonderful acknowledgement of our world-leading research efforts in genetic heart diseases. At the NSW Govt Heart Foundation annual showcase, the two Ministerial Awards presented by health minister Hon Brad Hazzard , were won by Dr Jodie Ingles (RIsing Star) and Prof Chris Semsarian (Research Excellence). Last night, Jodie also received the Centenary's Gender Equity Research grant. These awards are received on behalf of our entire "TeamCardio", our amazing patients, and our dedicated supporters, and further illustrates the importance of research in trying to improve the care of families with genetic heart diseases. Well done to all