Sudden Cardiac Death: A Family Affair Case History The night of May 5th began much like any other; the usual bedtime fights with the children and last minute preparations for school and work the next day. For this then 40-year-old Mum, bed was especially welcomed as the toll of University study combined with raising an active family of 4 adding to the frenetic pace of life. Although the last 2 ˝ years had been particularly stressful, there was nothing obvious in this family's history to suggest the events of the coming night were imminent. At approximately 4.30am my husband awoke to a gurgling, rasping noise he initially put down to possums fighting outside, despite living in the heart of suburbia! After waiting a minute or so the gurgling did not stop so he turned the light on to investigate further and discovered his wife (me) lying next to him apparently dead. By this time the noise had stopped and in his panic stricken state he noted that I was waxen looking with a dusky blue tongue and lips, he could not find a pulse and my eyes were open and staring. After attempting to lift me off the bed, he succeeded in dropping me onto the floor, where he instigated CPR. My 21-year-old daughter heard all the commotion and upon checking our room immediately rang 111. The older children then assisted Mike in his CPR attempts and eventually a measure of cardiac output was attained. In hindsight it appears the drop onto the floor worked like a precordial thump and established a rhythm of sorts so when the ambulance arrived a DC shock was not required although the rhythm was extremely erratic and predominantly atrial fibrillation. I was unconscious for around 6 hours awaking in the Resus area of our local hospital. My memories of this time are understandably hazy, however I remember being shocked that family (those that I could recognise!!) from far and wide were hovering over my bed weeping and my eyesight was badly affected. I preferred to keep my eyes shut as it was like looking through a kaleidoscope with the colours falling away at the peripheries. My initial thought was that I had had a stroke and I did not want to be aware of that as I felt panicked so kept my eyes shut and did not even attempt to speak as mostly nonsense came out. Peculiarly I could recognise it as nonsense but was powerless to control it. My memory has never regained its steel-trap power again. I work very hard to cover this and know I have to double and triple check everything. Diagnosis Now the search was on to find what had caused the near death of me, a woman in robust good health, no serious illnesses in my past and no family history of sudden and early death. There were a couple of interesting clues. One year earlier I had consulted my GP about a series of strange nocturnal events that had sporadically occurred over a two-three month period. I had been woken in the early morning hours on about six occasions with central crushing chest pain, SOB, and palpitations with a sense of impending doom, much like waking from a nightmare except with pain. I was referred to a cardiologist for a review as she had also detected I was quite bradycardic with a pulse around 45-50bpm. I was unconcerned at this as I had been very sporty until recent years and had always had a slow resting heart rate as did all four of my children, each of them detected in utero. We thought we were a family of triathletes in waiting!! The cardiologist did not discover anything untoward and put my symptoms down to stress. Long QT syndrome is one of a group of uncommon congenital cardiac disorders that appear to strike seemingly at random and often without warning. Known as a "channelopathy"…a gene mutation affecting either the sodium or potassium channels in cardiac myocytes, this syndrome causes syncope, dizziness and sudden death often during exercise, swimming and conversely sleeping. First described in the 1950's but only widely published in the last 15-20 years, 7 types of this syndrome have now been documented with types 1,2 & 3 being the most common. The potassium channel is the most widely affected with only LQT3 responsible for approximately 5% of Long QT diagnoses, affecting the sodium channel. Types 1 & 2 are responsible for the remaining 95% of diagnoses while 4,5 &6 are individual families. Type 7 also known as Andersen's syndrome, is associated with total body collapse as it affects the potassium channel in all skeletal muscle not just cardiac. Gates that open and shut depending on whether it is the polarisation or repolarisation phase of the cardiac cycle govern the potassium channels. In Long QT these gates or the pores that allow the electrolytes to flow in or out of the cell are defective. The gates may remain open too long or the pores are malformed allowing the potassium and/or sodium to take longer than usual to flow into or out of the cell. This delays the repolarisation phase, thereby prolonging the QT interval hence the name of the syndrome. The phenotypic changes resulting from these mutations express as a QT interval longer than 460ms (variable between male and female), bradycardic for age, a peaked or bifid T wave and is some cases what appears as a right bundle branch block. Often but not always a personal history of syncope, unexplained collapse and palpitations is uncovered and occasionally a family history of sudden unexplained death. My symptoms were almost an exact fit for the Long QT3 phenotype, older age at first symptom, more often a fatal or near fatal event, profound bradycardia and nocturnal events. Treatment I was given this diagnosis after a fortnight in hospital, and told I must have an Implanted Cardiac Defibrillator (ICD). This small device is situated just below the collarbone with leads into the subclavian vein, into the right atria and ventricle. Sometimes just a single lead is implanted into the right ventricle. This device has parameters individualised for each recipient and may be able to pace as well as deliver shocks to restart the heart. The procedure is completed within 1 ˝ to 2 hours and the recipient is able to leave hospital the next day. For me the fitting of this device was incidental to the actual diagnosis, which was to have profound and far reaching effects on my family. We were told this is a hereditary condition, a sudden death syndrome, and my immediate family must be tested as soon as possible. Thus my children, my parents and brother and sisters all had screening ECG's at Greenlane hospital whilst I was still a patient there. Because the ECG's changes can be subtle or only uncovered during exercise, all my family members had an exercise test and 24hr holter monitor as well. Imagine lying in hospital having survived a cardiac arrest to be told you have a sudden death syndrome and those around you are at risk!! Because my children are (were) all active sporty kids as well as in very good health I did not for one moment believe they had been affected and thought it must have been just me. One of my sons did worry me as he had fainted on a school tramping trip about six weeks earlier, but recovered in a minute or two with no obvious effect. However my hopes were not to be as it transpired that all my children were positive for Long QT on both resting ECG's and on their exercise test. Every other member of family has a normal ECG including cousins from both sides who decided to be checked. Fortunately for us a research project was in place at Auckland University identifying the extent of Long QT in the New Zealand population and we able to get our blood to this group for gene identification. After 1 year we were given the results…. we were positive for LQT1 or gene KVLQT1. This was a surprise as our symptoms matched LQT3 perfectly. We were also given the name of our mutation T265I (N). This jumble of letters and numbers is unique to us, the Claytons, as this particular mutation has never been described in world literature so it appears we are the owners of a rare and novel mutation! The LQT1 gene encodes a protein responsible for the slowly activating component of the delayed rectifier K+ current, located on chromosome 11. A unique feature of the ECG morphology for LQT1 is the particularly long T wave duration especially in lead 2 and the V leads, a feature that all the Claytons display. The Family Affair. What does this diagnosis mean to us??? On a day to day basis our lives haven't changed at all but in a wider view everything has changed. We have a list a mile long of medications and foodstuffs that we must avoid. We have been told to avoid swimming and in particular deepwater sports and surfing, snorkelling etc. Contact sports are out for those of us with ICD's and competitive sports are meant to be avoided as well. A marathon or triathlon is out of the question but with the beta blockage and inhibited cardiac response this would probably not be possible anyway. We must ensure our diets are high in potassium rich foods and stay well hydrated to ensure good electrolyte balance. Jake my 15 year old has a quite profound reaction to the beta blockers, with his heart rate now in the high 20's low 30's and his blood pressure lowered as well, it is essential he maintains a adequate fluid intake otherwise he just cannot do much as his exercise tolerance has dramatically reduced. Each time one of the kids goes to a friend's house to play or visit we must ensure the parents are told of their condition in case of an "event". I find this very tiresome, as I get quite sick of going through the explanations each time and seeing the reactions on the parents face. Now that the boys are teenagers and Danielle has left home this is not such a big deal but still must be done, as you never quite know. Fortunately for us the best friends of both the boys have parents in the medical profession, with one a cardiac nurse and the other a research scientist both of whom are well versed in Long QT. This has taken a weight off our shoulders, as we are always happy if they stay at these houses. As for friends and family this has been a very difficult condition to describe. Because we all look healthy our families find it hard to accept we have a cardiac condition especially one that can steal you away in a literal heartbeat. We are blessed to have wonderful friends that we can confide in and whose shoulders have borne the brunt of my tears anyway. Each of us reacted to the events of 2002 & 2003 in unique ways. Firstly the shock of learning each of the children had LQT sent my husband into denial that anything was wrong with his beautiful children at all. He has subsequently absented himself from every appointment and subsequent hospitalisation of our children and myself. We don't often talk about this; I guess the enormity of it all is just enough to be going on with. Our relationship has not suffered at all, if anything we are closer now than before "the event". My eldest daughter Danielle, now 24, is an avid surfer and water sports enthusiast. The news that she would have to give up her lifestyle sent her into a mild and ongoing depression that she is still receiving (genetic) counselling for. She is currently on Metoprolol and denies she has ever had a symptom!! She continues to surf, but has given up diving. She is a 4th year design student and uses this outlet as an expression of her grief and sadness at this turn of events in her life. She is mostly OK though. In July 2003 Tom (then 12) collapsed at school after clowning around with friends and ended up in Greenlane hospital undergoing ICD implantation. This was his 5th collapse as his previous collapses that we thought were always delayed concussion from his Rugby games are now thought to have been cardiac related. He is a changed boy since this procedure, as he feels so much safer with an ICD despite having to give up his beloved Rugby. He now participates in fencing and debating at school and apart from a short time undergoing counselling as a result of seeing his Mum being resuscitated, is coping extremely well with his life. He tells me he couldn't care less about his ICD showing through his skin and runs around in summer with his shirt off. At each ICD check Tom has had runs of Torsades recorded although each has self terminated before a shock was required, the longest being 16 beats. I am deeply thankful Tom is still alive. Jake was at the beginning of his teen years when I had my arrest and perhaps typically for a 13 year old preferred to ignore the situation and pretend nothing had happened. However when we received the gene results our doctors sought the advice of colleagues from overseas that recommended Jake undergo prophylactic ICD implantation because of his profound bradycardia and sinus arrhythmia. The doctors believed he was at high risk of a cardiac event as his resting heart rate was between 35-40. Now with beta blockage his resting heart rate ranges from 27-35 bpm and he is frequently paced overnight. Jake had his ICD implanted the week before Christmas last year. He is now 15, and believes his ICD is a "chick magnet" and loved walking around shirtless last summer showing off his scar!! Marin our youngest is now 7. In June Marin had a reveal device implanted to record any arrhythmias that may be occurring as she had been getting dizzy spells in the afternoons and evenings while she was resting. Thankfully there have been no nasty rhythms, however it appears she metabolises the beta blockers she is on very quickly as she has elevated heart rhythms at the same times she is feeling dizzy. Her beta-blocker dose is about to be increased, but she is unlikely to need an ICD in the near future. Marin manages activating her Reveal device extremely well and when she grows up wants to be a doctor like Dr Margaret Hood and put ICD's in people!! As for me I am sure my nursing notes from the time will have recorded my affect as "anxiety ++++++" and to a degree that has lessened only slightly. I graduated six months after my cardiac arrest as a registered nurse and now work as a staff nurse at ACH CCU. I feel very safe working there as if anything happens to me at work I truly am in the best place! For me the worst time was when the gene results came in. For some reason I expected to be told the children were clear and it was all a big mistake. When they came back positive I was absolutely devastated and cried easily and frequently oceans of tears. I would walk to the nearest beach and howl at the moon and curse the gene God for inflicting this on us. I am now well past this as I feel of any family to be given this gene we are probably one of the most able to cope. However about this time I did fall into a depression, which I tried to keep hidden from family and friends, as it seemed I should be able to cope so long after the event. I gained quite a bit of weight and had trouble sleeping although this has lifted to a degree but the effects still linger. I belong to a support group on the Internet with members from all around the world and many times these wonderful people have helped me. They are all walking the walk and have either lost loved ones to LongQT or survived a cardiac arrest themselves so have an absolute understanding of the issue's involved with living with this disorder. I hope to meet some of them, some day. This has opened more doors than it has closed and I largely see it as a positive effect in our lives. All our lives have been changed but not necessarily for the worse. We have developed a black humour regarding death, with Jake asking if he gets extra babysitting money if he has to do CPR, and Mike and I tossing coins to see who will check on the kids if they sleep in! At work I love nursing the ICD patients and cardiac arrest patients and spend lots of time talking about living with ICD's and recovery following a cardiac arrest. This is not altogether an altruistic gesture on my part as I get just as much out of it as the patients. The future This gene is a dominant gene so each child of a person carrying this gene has a 50% chance of inheritance. It is just unfortunate all four of mine inherited it. Because our gene has been identified, when the time comes for my children to have children of there own they can choose to genetically test each foetus and a therapeutic abortion is available. I feel this is a rather heavy-handed way of going about things as in every other way we are perfect!!! Currently there are research teams around the world looking at gene specific therapies, as a more targeted option than the current beta-blocker + or - ICD option for everyone. This may include sodium channel blockers and potassium channel blockers and looking at drugs that are currently known to prolong the QT interval and seeing if the reverse can be made to occur. There are also teams working on genetic engineering so hopefully at some time in my lifetime we will be able to rid this mutation from our DNA. The future is very bright for us, the children have learned to live with the curve balls that life sometimes throws at us, Mum and Dad maybe not quite so well as the children but we are all alive and at this time that is the most important thing for me.