All members of CIDG join the paediatric medical community, and the people of Taranaki in expressing our great sadness at the death of Alan Parsons. He was a humble, hard working, fun and much loved paediatrician. We extend our sympathy to his family and to his close colleagues and friends. He faced his terminal illness with dignity and strength, and as always a dry and ever present sense of humour. Despite being the most senior paeditrician in Taranaki, he understood and supported the purpose of CIDG, and became a keen and helpful member of the group. We shall miss him, and remember him with fondness.

As more and more families are found with inherited heart disease, and evidence increases as to the effectiveness of treatments which prevent sudden death, there is a need to streamline services for these patients. A recent study from the US highlights the value of a dedicated screening clinic in terms of finding new affected family members and offering treatment. CIDG would like to see such clinics throughout New Zealand and Australia with expert cardiology and genetic input. To read more click here.

Just as certain medications need to be avoided in long QT syndrome- the same is true for Brugada syndrome, because some medications or drugs can affect the sodium pump in heart cell wall which is not working well in Brugada syndrome. Until now there has been no comprehensive review to tell us what to advise us what should be avoided in people who have Brugada syndrome.  A consortium of international experts on the syndrome have started a website to do just this, at www.brugadadrugs.org. Of particular note for anaesthetists- propofol and bupivicain are to be avoided. Several antidepressants are listed (including amytriptyline, nortryptiline) and the antispychotic agent trifluoperazine ('Stelazine"). Patients themselves should not over-indulge with alcohol (and cocaine is especially dangerous).

Further strong evidence of the importance of family and genetic screening following sudden unexplained death in young people comes from another landmark study from London. Lead by Dr Elijah Behr and Bill McKenna this heart group investigated 50 consecutively referred families with SADS ( a young sudden death where the post -mortem revealed no cause of death). 184 family members were examined, and thirty families (53%) were diagnosed with an inheritable heart disease. The commonest among these were long QT syndrome, Brugada syndrome and arrhythmogenic right ventricular cardiomyopathy.

CIDG hopes that this evidence will help persuade the Ministry of Health in New Zealand to support the work that CIDG does to help families who have suffered a young sudden death. CIDG has applied for funding for liaison nurses around New Zealand to help families access the appropriate experts, and to fund the relevant genetic tests.

While people with long QT syndrome are mostly aware of the importance of avoiding a list of certain medications (www.qtdrugs.org), many will not realise how dangerous some over-the-counter herbal remedies and weight-loss supplements can be. A report in the May edition of Heart Rhythm has highlighted the dangers of weight-loss supplements.CIDG is now updating its advice to all subjects with long QT syndrome, and indeed anyone with heart disease:

Herbal Supplements- take great care, many dangerous ingredients include  ma huang , or Chinese ephedra, (aka ephedra, Ephedra distachya, and Ephedra vulgaris-Banned in the USA, in 2001 this caused 64% of adverse herbal reactions). Bitter orange (aka synephrine HCl, and Citrus aurantium- this contains substances which mimic the effects of adrenaline). Green tea in large amounts (aka Camellia sinensis) partly dangerous due to the high caffeine content. These substances are often mixed together in herbal preparations and may prolong the QT interval and cause cardiac arrest.

A proposal to destroy all 2 million New Zealand Guthrie cards stored at the National Tesing centre lies before the Minister of Health Mr Tony Ryall. These newborn screening cards store four small drops of blood at a few days of age to screen every infant for rare diseases. They have been kept for quality control reasons- to see if any who tested negative eventually had the disease they were screening for.  But now these cards have been used by CIDG clinicians around New Zealand to diagnoses cause of death where the standard post-mortem examination has failed. CIDG has used cards up to 23 years old to make a diagnosis of long QT syndrome posthumously using genetic tests on the blood spot. CIDG's Chairman Associate Proessor Jon Skinner was interviewed by the New Zealand Herald and said " whilst we support careful oversight and regulation of these cards, their destruction seems like a mindless excercise" .The potential of these cards for clinical and for anonymised medical research use is very large. CIDG clinicians struggle to interpret genetic testing results all the time because we know so little about the genetic make up of our population- what is normal in China and the USA may not be normal here.

Associate Professor Andrew Shelling, a research scientist who works closely with CIDG, and represented the CIDG viewpoint to the government inquiry, was also interviewed on Radio New Zealand.

We hope Mr Ryall remains aware of the needs of people with inherited heart diseases- many of whom have yet to discover they have them.

The media in New South Wales have reported three young sudden deaths where the post mortem examination revealed no cause. The forthcoming planned 3 year prospective study of young sudden deaths in Australia and New Zealand, under the  TRAGADY group and led by Associate Professor Chris Semsarian, was mentioned. We have much work to do to find the cause of death in these young vibrant people. To read some of the articles click here or here.

The research effort continues apace and CIDG are pleased to announce three research reports which will shortly be published in peer reviewed scientific journals. The first is a report of the common misdiagnosis of long QT syndrome as epilepsy at first presentation. A siezure following a sudden collapse- or occuring during the night, is often thought to be due to epilepsy rather than due to a heart rhythm problem. Delays in diagnosis of up to 23 years have occured. This will be publised in "Annals of Emergency Medicine"- a high impact journal from the USA for emergency physicians (McCormick et al). The second is a collaborative effort with the Garvan institute in Sydney, where the in vitro (laboratory) testing of cell function in long QT type 2 was compared with the clinical presentations- this will be published in Journal of Cardiovascular Electrophysiology (Vandenberg et al).  The third reports a similar analysis with respect to long QT type 1, a result of collaboration with Professor Dan Roden in Tennessee, this will be published in the highly influential journal "Circulation: electrophysiology and arrhythmia" (Tao et al).

When Tammy lost her 11 year old son Sam to a sudden death, she like all parents in this situation, was utterly devastated. To try to help others in this situation, she has started a support group in her home state of Tasmania, and started a new website with links to the SADS group. CIDG and the TRAGADY movement wishes her well with this brave venture. To view the website click here.

The CIDG team are delighted to announce their affiliation with the UK Arrhythmia Alliance. This highly successful charity, driven by family members who have personal experience of life threatening arrhythmias, share many of the same objectives as CIDG. They have been instrumental in maintaining a high profile of sudden death syndromes in the UK and world-wide, achieving major funding from the UK government in health services in this area. We look forward to a productive partnership.

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.