Inherited heart conditions - National Screening Programme

Improving the diagnosis of inherited heart conditions through a National Screening Programme

Professor Jon Skinner
ADHB and University of Auckland

What is the problem and who does it affect?

Tragically, each year 100 children and young people are lost to sudden an unexpected death as a result of inherited heart conditions. Many of these conditions are still unexplained, and often the first symptom is death, allowing no recourse of treatment. Yet if they are detected in life, death can be prevented.

Among these deaths, long QT syndrome is the most common culprit. A relatively common condition (one in 2000 live with it), it is characterised by the heart taking longer to recharge than it ought to. This can result in blackouts or seizures – often misdiagnosed as epilepsy – or worse, death.

The varying levels of severity of the condition mean that some people are responsive to medications such as beta blockers, while others, usually those who have survived an attack, will benefit from an implanted defibrillator.

What is fundamental to saving lives for conditions such as long QT is early detection of the condition, and the instigation of protective treatments, often as simple as a daily medication.


What is the research hoping to achieve?

Cure Kids have provided more than $1.5m of funding to the Cardiac Inherited Diseases Group (CIDG) over the last decade. CIDG exist to: simplify the screening of at-risk individuals and families; educate individuals, families and health professionals about cardiac inherited disease and the risk of sudden death; and to develop best-practice guidelines for health professionals. They aim to DECTECT those affected, PROTECT them, and ENABLE them to get on with full and productive lives.

CIDG is led by Paediatric Cardiologist Professor Jon Skinner, who has had a close relationship with Cure Kids for a number of years.

The CIDG has a registry which enables it to keep track of hundreds of families scattered across New Zealand, helping align them with local health professionals, while assisting in administering preventive therapies as well as carrying out genetic testing which informs families of the risks present in other family members. More than 2,300 individuals are registered, over 800 have had a genetic test diagnosing their condition. For conditions like Long QT, which are often without symptoms leading up to death, accurate and timely diagnosis is fundamental to effective care and for saving lives.

Dr Skinner and his team recently released a paper in the New England Journal of Medicine on Cure Kids-supported research they had done, in collaboration with Australian investigators, in which they collected data on all cardiac deaths of 1-35 year olds in Australia and New Zealand over a two-year period.

They established that 27 per cent of unexplained deaths in young people resulted from a previously undiagnosed genetic condition. This knowledge is critical to surviving family members who may have the same genetic condition.

Dr Skinner and his group continue to carry out clinical work, helping families deal with the reality of losing a young family member, helping ensure the best possible treatment is provided for those who may be predisposed.

They also continue to further the quest to find genes for unexplained conditions, which assist in detecting other family members who may be predisposed, and hopefully informing future therapies and treatments. A great example of research transitioning from the lab to the bedside.