The new information sheet provides key information on left ventricular noncompaction (LVNC), a genetic heart disease which is less well recognised compared to other cardiomyopathies. LVNC is a rare disease, caused by a gene fault affecting the muscle of the left ventricle during development.  Symptoms can vary widely, with some people having no symptoms while others may experience shortness of breath, palpitations, chest pain, dizziness and/or fainting. Occasionally the disease can cause heart failure, stroke and sudden death.

Read more about LVNC information sheet

Learn more about other genetic heart conditions :

ARVC information sheet

CPVT information sheet

DCM information sheet

HCM information sheet

LQTS information sheet

Published in the prestigious Heart journal, the study found genetic testing of families with hypertrophic cardiomyopathy (HCM) is more cost-effective than clinical screening alone.

Although genetic testing seems marginally more expensive than clinical screening alone, there were clear gains for patients such as a longer, happier life. It also had the potential to save costs in the future.

“Our research found that adding genetic testing to patient care may actually save healthcare cost when the price of the gene test is reduced. The good news is this is expected to happen within the next year due to vast improvements in technologies,” said Dr Jodie Ingles, Registry Coordinator and lead author of this study.

“A genetic test can identify people who don’t carry their family’s gene fault so it means they don’t need a lifetime of cardiologist visits,” added Professor Chris Semsarian, Registry Advisory Chair and the study’s senior author. “This can also free up resources to help people with disease and reduce demands on our healthcare budget.”

If you’d like to find out more about genetic testing, please email us at registry@centenary.org.au or call (02) 9565 6185.

Question: My children know I have a genetic heart disease but they still haven’t seen a cardiologist. Do you have any suggestions about how I can get them to see a doctor?

 Answer: from associate genetic counsellor Laura Yeates

Most inherited heart diseases are passed on in such a way that first-degree relatives (siblings, parents, children) have a one in two chance (50%) of also having the disease. Many people with a genetic heart disease can also be symptom-free but still be at risk from rare, life-threatening complications so clinical screening is critical. But what do you do when family members refuse to go?

As the genetic counsellor at the Sydney Heart Centre at RPA Hospital, I’ve heard many different responses to why people don’t want to be checked (“He says he feels healthy”, “She doesn’t want to know”, “They’re busy now but they said they will get around to it”).

This can be a very difficult and sensitive matter when you’re worried about your children, siblings or even parents. Here’s what I recommend:

Just what the doctor ordered: Give them unbiased but credible information on your condition. There are information sheets available on our website. If your condition hasn’t been published on our site yet, email us and we’ll work towards adding one shortly or recommending a reliable site. You can also ask your doctor to provide you with a letter highlighting the risks and recommendations for family members.

Leave information with contact numbers around the house. You’d be surprised how many times an information sheet gets read just when someone is sitting down to have a cup of coffee. Make sure the contact numbers and/or website are included so they can call and ask a question.

Use your regular check-ups as a reminder. Make a simple statement like “I was at the cardiologist the other day. He/she asked after the family and if you’d been checked”. Try not to push too much but answer questions if they show interest.

Don’t hassle them too much. As the saying goes, you can lead a horse to water but you can’t make it drink. If you’ve informed them of the risks and the recommendations, it’s ultimately up to the individual whether they get checked. Remind them every so often but respect their decision. As time goes on, you may find that as their circumstances change (e.g. they have children) so does their attitude to seeing a cardiologist.

Got a suggestion? If you have any other ideas we’d love to hear them. Please post a comment or email us with your story or any helpful suggestions.

The $29,000 HeartKids grant will be awarded this evening to Professor Chris Semsarian and young investigator Annie Evans from the Molecular Cardiology Research Program at Centenary Institute. These funds will support a project investigating faulty genes that may be responsible for sudden death in babies and young children, including Sudden Infant Death Syndrome (SIDS).

Professor Semsarian, who is also Chair of the Registry Advisory Committee, said: “Annie is investigating key genes that may be responsible for electrical disturbances in the hearts of babies and young children.

“Our early research is showing promise but we still have a long way to go. This funding from HeartKids Australia will go a long way in helping us continue our work. We hope our research will eventually help prevent heart-breaking deaths in our youngest Australians.”

This grant is one of six awarded as part of the $240,500 research Grants-in-Aid program introduced this year by HeartKids Australia. The program is supported by Wilson HTM Foundation (founding partner), Kiwanis Australia and the Heart Foundation.

The grant for the Centenary Institute team is the only one awarded to a genetic research project and one of just two awards to be given to researchers in NSW.

Brian Pereira, Chairman of HeartKids Australia, reaffirmed the importance of research into childhood heart disease as it is the leading cause of death of children under the age of one and affects the lives of so many children.

“The money we raised throughout the year has been awarded to outstanding researchers from around Australia in a very competitive process.

“We hope these grants will give us a better understanding of this devastating disease and that this will lead to improved diagnosis, better treatments and increased quality of life for those affected.”

For more information or to view photos from the Awards event, visit www.heartkids.org.au

Little bunnies are out and hot cross buns are being served.

On behalf of all the team at the National Genetic Heart Disease Registry, we wish you a happy and safe Easter with your loved ones. Hope you share lots of laughter and fun (and chocolate) with your family and friends.

Happy Easter!

Jodie, Chris and the Registry team 

Question: As part of the dietary limitations on a person suffering from a SAD’s, what is the recommended limit of stimulants such as caffeine? Kathy C

Answer from Professor Chris Semsarian:

High levels of caffeine can have negative effects on the heart as it can alter the heart’s rhythm and raise blood pressure.

In the past year, several of my patients have been hospitalised with heart rhythm problems after consuming energy drinks high in caffeine and other additives. Cardiologists in various parts of the world have also reported similar events.

High levels of caffeine, especially when combined with other ingredients like guarana or taurine, can make the heart go faster, leading to very dangerous rhythms that can ultimately cause sudden death.

For someone with an underlying heart condition, this combination of ingredients could have a potentially lethal effect.

It’s also dangerous when a young person or adult doesn’t know they have an underlying heart problem. Drinking the energy drink could unmask the problem with deadly consequences.

People have asked me about whether it’s the same deal with coffee. It doesn’t seem to be the case. I believe this is because, compared to energy drinks, standard coffee is drunk more slowly, it’s lower in caffeine and doesn’t contain potentially harmful additives like taurine.

My verdict

For people with heart problems, especially someone with a heart rhythm disease (e.g. Long QT Syndrome/LQTS, CPVT, Brugada), I suggest avoiding high-caffeine energy drinks altogether and limiting standard coffees to no more than 1-2 per day.

I also suggest the same precautionary measures for anyone who has had a family member – whether it’s a parent, aunt/uncle, cousin, grandparent or great grandparent – who has died suddenly for no apparent reason.

In the news

You can also read a news story and watch an interview at ninemsn.

Got a question?

If you have a query or an issue related to genetic heart disease, please email us, post it on our Facebook page or tweet @CSHeartResearch to get an answer.

February is HeartKids Awareness Month & Valentine’s Day (14 Feb) is HeartKids Awareness Day! HeartKids is trying to raise awareness and funds in Australia about Childhood Heart Disease (CHD), which is one of the biggest killers of children under the age of one.

HeartKids is an amazing Australian organisation that focuses on all aspects of children’s heart disease. HeartKids offers support to children and their families who are suffering with CHD and they also fund research projects into Childhood Heart Disease.

Our Molecular Cardiology Research Program recently received a generous $29,000 grant from HeartKids to support our research into the potentially deadly role of genetic heart diseases in sudden death in children, including Sudden Infant Death Syndrome (SIDS).

The much-needed funding will support the efforts of a passionate young Centenary Institute scientist Annie Evans. Annie is investigating key genes that may be responsible for electrical disturbances in the hearts of babies and young children. We hope this work will help prevent these heart-breaking deaths in the future.

There are a number of great ways to get involved in HeartKids Awareness Month & Day, check out their new website at www.heartkids.org.au to find out how you can get involved in events like:

• Capture a Heart on Facebook – upload a heart image that you’ve spied and photographed
• Wall of Hearts – write a message of love and support at any Retail Food Group outlet such as Donut King, Brumby’s and Michele’s Patisserie
• Golden Heart Campaign – on Valentine’s Day swap the roses and chocolates for a heart-warming donation to HeartKids

Prof Chris Semsarian

As a ‘rare’ day, 29 February 2012 marks the 5th World Rare Disease Day. Rare Disease Day seeks to bring about positive change to benefit people with rare diseases, which in Australia is defined as one that affects one in 10,000 people or less.

Following a major launch in 2011 with support from the Steve Waugh Foundation, major organisations supporting rare diseases are coming together in 2012 to continue drawing attention to people, especially children, living with rare diseases.

New website launched for Australians

The Rare Disease Day Australia website has lots of information on rare diseases, World Rare Disease Day, the organisations that support the day and their events. Take a look at how you can get involved at www.rarediseasedayaustralia.com.au

Through this website individuals and families can come together and share their stories, and a place for the public to learn more and show their support to those affected by rare diseases in Australia. The website is linked to a Rare Disease Day Australia Face Book page to build a forum and supportive community around Australia to promote and build the Australian Rare Disease Day campaign.

2012 highlights Solidarity

The theme for 2012 is “Solidarity”. An international video has been launched to promote the slogan “Rare but Strong Together” to highlight the fact there are 8000 known rare diseases, the majority of which have a genetic origin. Although each disease is rare, collectively they affect up to 10% of the population. That is up to 2 million Australians (including 400,000 children) affected by rare diseases.

Workshop on Rare Diseases

To mark International Rare Diseases Day 2012, the Australian Paediatric Surveillance Unit is hosting a Rare Disease Workshop on Wednesday 7 March from 9am – 5.30pm.

This Educational Workshop will be held at the Kerry Packer Building, Kids Research Institute, The Children’s Hospital at Westmead and will be provided free of charge to families.

For more information, visit http://www.apsu.org.au/

The latest enrolment on the National Genetic Heart Disease Registry has taken us to the 1000 mark!

This huge achievement is thanks to the collaborative efforts of key centres across Australia and the involvement of Australian families affected by genetic heart disease who are keen to help make a difference.

The valuable data we have collected from the 1000 people on the Registry is helping us identify better ways to diagnose and treat people with genetic heart disease. Ultimately, we hope this will improve and save lives both now and in future generations.

Reaching 1000 is a great start but we still have a long way before we enrol every Australian family with genetic heart disease (our lofty goal for the Registry!).

This goal may seem overly ambitious to some. But I’m inspired by the amazing positive support we’ve had from people with genetic heart disease, their families and their health professionals. If we continue to receive this great level of support, I’m confident we can get there.

If you have genetic heart disease and would like to join the Registry, please email me at registry@centenary.org.au for the secure online link.

Jodie Ingles

Following the tragic death of a much-loved husband and father of two young children, Anton, friends rallied together to form the Keep Young Hearts Beating committee to help make a difference. Anton died unexpectedly from a genetic heart condition known as Long QT syndrome at just 33 and the members of the Committee were keen to help other families avoid a similar loss.

To help raise critical funds for research into Long QT Syndrome and other genetic heart diseases, the Keep Young Hearts Beating committee held their first fundraising ball on Saturday 8 October in the Grand Ballroom at Taronga Zoo.

Guests at this amazing event dressed in black tie with a touch of Zebra in honour of Anton’s South African upbringing. Keep Young Hearts Beating committee member Katie Patterson said she was overwhelmed and touched by the generous response they had from the event supporters and guests.

The Young Hearts Fundraising Ball has raised much-needed funds for the Agnes Ginges Centre for Molecular Cardiology (The Centenary Institute, University of Sydney) to support research into genetic heart diseases in people under 35 including the National Genetic Heart Disease Registry.

Professor Chris Semsarian, Head of the Agnes Ginges Centre for Molecular Cardiology, said: “I am truly honoured to be the chosen charity for this wonderful event set up by an amazing group of people in memory of their friend.

“The vital funds raised from this ball will help us improve our understanding of genetic heart disease, especially in young people like Anton. We hope to use this understanding to develop new ways to treat these conditions and prevent sudden cardiac death.”

To donate online visit http://www.keepyoungheartsbeating.com