At 7.30pm tonight, the Sunday programme features the story of three young New Zealanders from the same family who have died suddenly and without clear cause. Even in the midst of this dreadfiul tragedy the remaining family are thinking of others- in how such deaths can be prevented. If you wish to speak to a professional for advice about yourself or your family, contact us via CIDGadmin@adhb.govt.nz. We can put you in touch with a suitable medical professional in your region, and give some thoughts direct to you by email or phone. The TV ONE site link is here.

The CIDG research team have announced their new discovery of large gene deletions and duplications as a cause of long QT syndrome. Of 26 families with long QT syndrome where standard genetic sequencing tests have not revealed a cause, 3 (11.5%) were found to have large gene re-arrangements detected by a different technique known as MLPA. It may seem like small amount, but in terms of diagnostic yield, it is the largest step forward since the dicovery of the commonest 3 genes linked to long QT syndrome. The paper, available on line pre-publication in "Heart Rhythm", the leading speciality journal dealing with heart rhythm issues, is accompanied by an editorial highlighting the significance of this finding. To review the article click here (and go to article 37). A press article can be found here.

To listen to a discussion with Associate Professor Andrew Shelling on Radio New Zealand National click here (and go to the time 18:21).

CIDG recommends labs around the world include MLPA testing as part of their routine service. It seems these mutations cause particularly severe disease, and may also be important in the investigation of sudden unexpected and unexplained death in young people.

The New Zealand Herald today highlights the moving story of Danielle Evans Gee, a lovely 21 month old girl who died suddenly in the night in 2001. By sourcing the Guthrie card (the neonatal screening card) from when she was a few days of age, CIDG scientists, with the help of Cure Kids Funding, were able to make a diagnosis of long QT syndrome years after her death. Danielle's mum is right behind the TRAGADY initiative to standardise autopsy investigation of young sudden deaths so other family members potentially at risk can be identified, and so that the greiving families may have an answer to the question "Why?".

The full story can be read by clicking here.

It is apparent to physicians that people with LQTS who have lost a near relative to sudden death are more motivated to take beta blocker medication consistently, and the physicians are more inclined to prescribe them. Families who have not experienced a sudden death first hand tend to be more retiscent to start treatment and make life-style changes.

The international long QT registry have just performed an analysis of their data to see if the risk of death was actually higher in individuals who had lost a sibling to sudden death (Kaufman et al. Heart Rhythm 2008;5:831-836). They found that it wasn't. Risk of sudden death was related strongly to a previous history of collapse (syncope), and a longer QT interval (QTc>0.53sec), but not to sudden death in a sibling. Beta blockers reduced risk by more than half overall. This work shows us again that beta blockers are life savers in LQTS, and the assessment of whether to implant a defibrillator should be based on the history and clinical assessment, and not necessarily the family history.

Today the RCPA have endorsed the best practice document written by the TRAGADY group. This document provides guidelines for pathologists dealing with  sudden unexpected death in the young (SUDY). Key features within the document are to encourage good communication with families at an early stage, to save tissue or blood suitable for DNA analysis, and to involve a cardiac genetic service, such as CIDG in New Zealand, early in the post mortem process. It is an important milestone for the group, and an important step in acheiving the aim of reducing young sudden death due to cardiac inherited heart disease. Now the challenge for each region in Australia and New Zealand is to develop the resources, protocols and infrastructure to ensure these guidlelines can be met.

To view the document you can click here for a link to the RCPA website, or go to TRAGADY on the menu on the CIDG home page.

CIDG joins in the celebration of this major achievement of the coalition for genetic fairness. This group have been campaigning to prevent discrimination against people based on genetic testing, most particularly with reference to insurance. This act has been approved by the US Congress and will hopefully be signed by president Bush on May 21st. For more information click here. We hope this will begin the development of similar legislation here in New Zealand and around the world.

Update- George Bush did indeed sign the document- for the full press release click here.

The international long QT registry continue to publish very helpful and informative data. This latest paper, by Goldenberg et al (Circulation 2008;117:2184-2191) shows that beta blockers reduce risk of cardiac arrest by 53%. Boys were five times more likely (in this age group) to suffer a cardiac arrest. A history of a previous collapse, even when many years previously, was the most important risk factor, especially in girls in whom the relative risk was 12- 28 times higher than without a previous blackout, depending on how many years previously the blackout occurred. In boys the risk was 3-6 times higher.

All children with long QT syndrome who have had a previous sudden loss of conciousness, unless proven to be a common faint, should be on beta blockers life-long, and this is especially important in females.

Last night ABC TV in Australia featured a story of three families tragically affected by young sudden death. Associate Professor Chris Semsarian, co chairman of TRAGADY, friend of CIDG and a leading researcher into young sudden death discussed the importance of doctors having a high index of suspicion when young people have an unexpected sudden collapse, and discussed the hope that genetic cures may be available in the future. The moving video can be seen by clicking here.

The TRAGADY group are meeting again tomorrow in Sydney to plan their collaborative research agenda, and to develop an information booklet for those who have experienced a young sudden death in their family.

The TRAGADY group were invited to attend the Asia Pacific Coroners meeting in Hobart on November 2 2007, to discuss the post-mortem investigation of young sudden death. TRAGADY were represented by Jo DuFlou, Chief Forensic Pathologist from New South Wales, Julie McGaughran, Head of Clinical Genetics in Brisbane, Queensland, and Jon Skinner, Paediatric Cardiologist from Auckland. The core messages were delivered and accepted well by the coroners who were in general keen to assist with this initiative. The core messages were that 1. young sudden death needs to be investigated with a post-mortem (and not ascribed to "massive heart attack" by a GP, for example) since such a death may hold vital clues to a condition which may cause sudden death in other family members, 2, Such investigations must be done by highly skilled and experienced pathologists 3. Such investigations require a team approach with skilled clinicians to take a good personal and family history, and coordinate family investigations 4, preservation of some material for genetic testing, for conditions such as long QT syndrome. There was lively and positive discussion around how the coroners can help with this process, and some coroners have expressed an interest in being involved with the TRAGADY movement.

The members of TRAGADY met again in Melbourne in September 2007, hosted by the clinical genetics and paediatric cardiology group at the Royal Childrens Hospital. TRAGADY are delighted to have completed the best practice document, guiding the investigation of young sudden deaths, which has been formally presented to the Royal College of Pathologists of Australasia. At this meeting the next core aim- a prospective and detailed population-based study of young sudden and unexplained death- was discussed. TRAGADY plan to apply for funding next year from the National Heart Foundation in Australia. The group grows in strength, and is now well represented by each state and NZ. We were delighted to be joined by Professor Lyle Palmer, eminent genetic epidemiologist, from WA. He brought much energy, wisdom and practical skills to the group.

Anyone wishing to join TRAGADY should contact either Dr Jon Skinner at the dept of Paediatric Cardiology, Starship Childrens Hospital in Auckland, New Zealand, or Professor Chris Semsarian at the Agnes Ginges Institute in Sydney. New members with interest or passion in this important area will be welcome.

The recent visit of Professor Jeff Towbin has allowed CIDG to establish a clinical research link with his laboratory in the USA. Families with Arrhythmogenic Right Ventricular Cardiomyopathy in NZ, have, til now, been unable to access such tests to facilitate screening of family members for the condition.

Dr Warren Smith, cardiologist, and Jackie Crawford, CIDG coordinator are arranging  four group meetings at which families may attend, seek advice and sign up for the genetic testing if they would like.

For further details, contact Jackie Crawford at Auckland City Hospital, by mail, via the hospital switchboard (09 3074949) or by email.

Article from the Press

Click on the links below to find out more.

Auckland press release

Christchurch press release

TRAGADY Press Release

Key members of TRAGADY and the genetics working group of the cardiac society of Australia and New Zealand had a back-to-back two day meeting in Brisbane April 12 and 13. At the first day there were excellent presentations on many aspects of research in the area of inherited heart disease. Particularly exciting was news of the developing national inherited heart disease registry for Australia, along similar lines to that of CIDG, though starting first dealing with the cardiomyopathies. This will be coordinated by Jodie Ingles, genetic counsellor, with local input from the new inherited heart disease unit in Brisbane, led by John Atherton (cardiologist) and Julie McAughran (clincial geneticist) and national leadership from Chris Semsarian, leading cardiac molecular geneticist from Sydney.

On the second day TRAGADY members worked hard to finalise key issues in the proposed forensic best practice document, dealing with young sudden death. Representatives from every state and New Zealand were there, with the exception of Northern Territories. This document will be submitted to the Royal College of Pathologists June 1 this year. The research agenda was also discussed, and a number of tasks were given to the group members to deal with by the next meeting, in September in Melbourne.

TRAGADY seeks financial sponsorship to help keep this momentum going- any potential benefactors please contact Dr Jon Skinner at the Starship Hospital in Auckland! (+64 9 3074949) We need in particular to keep some of the poorer members of our group coming to the meeting; some members of the lay group SADS- and the research scientists for example need help with travel expenses.