Louise Dee

Living with long QT syndrome

Hi, my name is Louise.

It all started in 1990 when I was 8 yrs old. I woke up hearing an alarm clock and realised it was my mother’s for work, so I got out of bed and went to turn the alarm off. When I went into her bedroom I turned the alarm off and tried waking my mother up but she did not wake up, so I then went into my grandparents room to tell them my mother wouldn’t wake up.

After that I didn’t see my mum ever again – she had passed away at the age of 30.

As I got older, I was more curious about what happened with my mum because my family was saying my mum just died in her sleep and I was confused because I thought “How can you just die in your sleep?”

So time passed. Then on August 7th 2000 I got a phone call saying my brother Daniel died in the shower – he was 23. Apparently he had just got out of bed and gone into the shower and collapsed and died. I didn’t know what to think – I was in shock…

At this point I moved back to England with my dad, as we had been living in Australia.

So after another horrific thing in my life had happened, it was scaring me because all my close loved-ones were dying for no reason! So I decided to go to the doctors and explain to them what had happened to my close family. These two deaths had happened in Australia so my mother and brother had not been registered at my doctors in the UK. The doctor was concerned and he sorted me out an appointment to go and see Dr Bowes at Northern General in Sheffield.

I had the ECGs done, the treadmills done and also the standing and sitting down thing to check my heart, but still came up as OK. But I also go dizzy a lot – like when you stand up really quick and you can go dizzy at times – but I go dizzy while I am washing the pots or something! So Dr Bowes decided to put me in for the electrophysiological testing where you are sedated and have a needle in your groin and they thread a thin tube through your vein up into your heart and then they experiment with different drugs to get your heartbeat going fast and slow….

As soon as I came out of theatre Dr Bowes came up to me and said, “Well we see you do have long QT syndrome and you will definitely need an ICD implanted ASAP.”

I was crying my eyes out, thinking “My life is over now!” Also feeling sorry for myself “Why me, why me…?” Simple things like going on fast rides and playing sports is going to restrict me a little bit and I also have two children so they have a 50/50 chance of having this condition.

So 6 months later I had this ICD (implantable cardioverter defibrillator) implanted and now I think if I didn’t have it I would be scared for my life. I feel very secure even though nothing is 100% guaranteed – but it helps hugely.

Now my children are undergoing treatment, but so far their tests have come back OK. I also had a blood test to see if they can find this faulty gene and if they do it will be easy to diagnose my children and other family members for this condition. But up to now I’m just enjoying life with my children and hope for the best that my children won’t have this condition.

Rob Jackson

Living with arrhythmogenic right ventricular cardiomyopathy (ARVC)

I am a 31 year old Sergeant in the Army Air Corps and until recently was a Lynx Helicopter pilot and aircraft commander operating in Northern Ireland. I joined the Army at 18 and have spent the past 12 years living an active, healthy lifestyle as a soldier.

I passed the Army Pilots Course in 2001 and have enjoyed the challenge of flying the Lynx MK7 and MK9 Helicopter. I have served in Germany, Bosnia, Canada, Poland, Cyprus and Northern Ireland.

I am a keen sportsman and have represented my Corps at rugby and windsurfing. I cycled approx 10 miles a day to and from work and considered myself as one of the fittest amongst my work colleagues.

It was Saturday 26th September 2006. I’d been out for a run with my dog Amber in the morning and was heading out for a few beers with the boys that evening. On our return from the club in the car, I found myself sweating and out of breath, it was about 2am. I got home and remember my partner giving me grief for the state I was in. I could feel my heart racing and decided to call an ambulance as I was struggling to remain conscious.

The paramedics arrived in what seemed like minutes and diagnosed me as being in VT (ventricular tachycardia), with a sustained heart rate of 240 bpm. I was rushed to Antrim hospital and was defibrillated back into normal sinus rhythm.

I spent a week in hospital connected to an ECG and showed no further symptoms. I then had an ECHO scan on my heart and exercise stress test on a tread mill and still showed no symptoms of VT. My consultant, Dr Tom Trouton, discharged me with suspected arrhythmogenic right ventricular cardiomyopathy (ARVC) and I was to return at a later date for an angiogram and EP studies. These were both carried out and I was still un-diagnosed. The next step was for me to have a cardiac MRI scan which I would have to wait for 4 months. Luckily the Army paid for my MRI privately at St Georges, which confirmed that I had ARVC.

I was shocked, I considered myself as a healthy and fit guy, with a promising future as a pilot and until that night in September, I’d had no symptoms at all.

On 19th January 2007 I was admitted to the Royal Victoria hospital in Belfast to have my implantable cardioverter defibrillator (ICD) fitted, which will protect me from abnormally fast heart rhythms. I was discharged the same day and am currently on 2 weeks sick leave to recover.

I am slowly coming to terms with the fact I’ll never fly again, or do all the things I’ve enjoyed as a soldier. I am lucky though, I very nearly didn’t make it. I’ve had a lot of help from my friends and family and the Army have re-employed me as an instructor.

I’m already planning a fund raising sponsored walk for the summer to help support CRY. I think their national screening programme is invaluable as most people with my condition are diagnosed when its too late.

Barry Hooton

Living with an implantable cardioverter defibrillator (ICD) and an undiagnosed condition

This story comes from two people – me, Anna (aged 17), a.k.a. “the girlfriend” and Barry (aged 23), a.k.a. “the mystery.” Its a long story, but perhaps may give hope to those who are also undiagnosed just like Barry.

This story begins on June 1st, 2007 – it was a weird day. For some reason I (Anna) was staying home from College and my mum was staying home from work.

This didn’t stop my boyfriend Barry from going to work at Pizza Hut. At the time I was playing our new Playstation 3 – Need for Speed Carbon, a racing game – when he said at about 12pm that it was time for him to go to work. We exchanged our usual hug and kiss and told each other that we loved the other. He walked out of the room, I heard his car pull out and he went to work.

The Call
At about 5pm, I looked at my watch for no reason and thought to myself, “He’ll be home in about 3 hours!” (his shift was 12-8pm). This meant I could talk with him for a while and cuddle before it was 10 o’clock, which was usually lights out – but this was a Friday, so it didn’t really matter. About 5-10 minutes after looking at my watch, my mum is running up the stairs with the phone in her hand. She’s looking desperately at me and passes it over saying, “She’s right here.” I casually said, “Hello” thinking that it might be my College tutor calling me.

Instead I was greeted with, “Hello, this is so-and-so from Walsgrave Hospital. I’m calling you about Barry Hooton.” I didn’t know what to think, I thought it may just have been a burn or something – what could possibly go wrong at Pizza Hut, right? And it couldn’t have been a crash in his car because he’s been working there since 12. Then I began to become confused as the nurse said to me, “You see, he’s ‘very poorly’. Do you have his parents number?” I said yes, and I gave her their number as I was put as his next of kin. Then she began to say, “Yes, he’s in ‘critical condition’.” This was when I stopped her and said, “Okay, is he ‘very poorly’ or in ‘critical condition’.” To me, there was a massive gap. It was confirmed he was in ‘critical’. So then my mum was frantic, just knowing she had to get me and herself to the hospital – we jumped in the car and drove.

On the Way out the Door
The next mode of action was I called his brother Paul to let him know, because I didn’t know if he had been told yet. His parents were already being called so I knew I didn’t have to worry about that. Still, we had no idea what had happened yet – they can’t tell you anything over the phone. So, on our way to the hospital I call Pizza Hut to try and find out what had happened. To my surprise the ambulance crew told them not to call me. The Area Manager had ironically just popped in to see how things were doing and he picked up the phone. He walked in as all of this just happened with Barry, and I was told that Barry had collapsed in the kitchen for no reason, while cleaning pots for the night shift to help out.

However, he had stopped breathing and his heart had stopped, and Caroline – one of the Managers – had given him CPR before the ambulance took him away. Later, we found out that Caroline was giving him CPR for about 4-5 minutes before the Ambulance came, and after that, it was another 20 minutes before they resuscitated him. In all, he was technically dead for 24-25 minutes. He had to be shocked 6 times before he returned to a semi-stable state.

Finally, we arrived at the hospital. I went into A&E with my mum, and had to wait in one of those awful off-side cubicles where they put people who are crying so that they can control the atmosphere. It was the longest wait ever; “the doctors are still working on him” they told me. Eventually, they had finished and I was able to go see him. To this day I will never forget what he looked like. I wanted to burst into tears so many times but held it back. He was hooked up to the works – ventilator, all sorts of tubes of different vitamins and sedatives going into him.

He was basically put into a medical coma to stabilise his body. The worst thing was, his eyes weren’t entirely shut, so his eyes were just there with water coming out of them from the air of the hospital – it looked like he was crying. I saw a bit of blood on his arm from I don’t know what and just immediately felt ill. I tried to talk to him like normal, in case he could hear me, but when someone is in that state and can’t respond, you can’t help but talk about them in 3rd person. I still had to wait for his parents, who were going to arrive at about 9pm because they live near Skegness while we were in Coventry Hospital!

Critical Care
Soon he was moved to the much quieter critical care area of Walsgrave Hospital. By now, he was cleaned up and just looked like he was asleep. They kept his body temperature lower than normal because it was therapeutic to the body. However, this made it no easier for myself to touch him because, as most people know, a body goes cold when it dies so every time I felt him it felt like I was touching a corpse. The feeling was awful. I talked to him now, just like he was awake, but the hardest moment came when he began to lurch. If you’ve ever seen the movie ‘The Exorcist’ and have seen the bit where the girl springs to an upright position, this is what happened with him at first. It was terrifying, because you didn’t know if he was in pain or anything and you just hoped that everything inside of him was OK and mentally he was OK – if he was conscious at all. Every lurch I wanted to just burst into tears because it felt like you were getting a reaction from something that technically wasn’t supposed to be able to move at all on its own. Later that night they gave him a full muscle relaxant which stopped this, and although he was away in sleepy bliss, none of the rest of us were. While he was asleep like this, I found it so hard to have much contact with his body. It terrified me. I knew it was him, but it was terrifying. I couldn’t at this point even get the courage to kiss his forehead.

There were two nurses who really stick in my mind, because they were simply brilliant. Their names were Lisa, a brilliant Irish nurse, and Ray, who reminds me of our friend Nicky. They were so brilliant and happy. I remember the first thing that Lisa said to me, “Oh, you must be Anna. I’m Lisa – I’ll be looking after your man today.” Ray also took very good care of Barry, always giving him a thumbs-up and always talking, explaining, and generally looking after him. Barry doesn’t remember meeting Ray, to this day.

“Waking Up”
All of Saturday he was asleep and the doctors on Friday had told us that they would start to wake him up. When someone says “wake up” you imagine yourself in the morning just… waking up! However, with this, they had to first very slowly raise his temperature to normal, then very slowly take him off the sedatives. Also, when he was first waking up, things were very hard. He was looking around, but the doctors had said that he hadn’t talked yet. I went in to see him, he had no energy. He could barely turn his head. The bed wasn’t big enough for him – he’s 6’4″ – and so he was semi-curled up on the bed, looking like a child. His eyes showed that he was terrified.

I talked to him, he would slightly nod, or slightly smile, but his body was shivering and shaking all over. I assume this was just the shock that was postponed. It was the sort of shaking your body starts to get when you feel like you’re going to be sick and you can’t help but quiver with the nervousness of it. I told him I was going to get some lunch and that I loved him, leant down and gave him a kiss on the lips. His first words, ever, after this whole thing were, “I love you too.” This made me jump inside. I was so happy. Not only that he remembered me, but that he was showing instant signs of progress – he could talk. I immediately told the doctor.

The next thing that he proceeded to say to me was when he was looking at me weird and I said to him: “Do you remember who I am?” He then pulled me down to his lips and said quite simply, “How can I forget you? You’re Anna, the love of my life.” I could have broken down and cried a million tears at this point. It was like something from a romance movie or novel. There are fairy-tale moments in real life, and this was the proof. However, at this point, he could still barely talk. When he did, it took everything he had in him. He also still could barely move. He was quite “disabled.”

The next thing was the worry. Within the next few days (Monday to Wednesday), every day or even hour just got better and better – more movement, more talking, more awareness, and more insanity! He began to remember things, but was also starting to hallucinate about things as well – this was the effect of the “comedown” of the sedatives. He thought he was living with his parents, going to college, even doing work experience at the hospital! All of the facts were there, but they weren’t being pieced together properly. I think the best instance to explain how someone is coming out of sedatives is this: Barry said to me, “The nurses locked me in the toilet.” I couldn’t believe what I was hearing. However, it was almost true. The nurses had walked him to the toilet because he didn’t like the catheter, and tried to let him do things on his own. When they tried to open the door after he’d finished, the door handle had come off! So he was technically stuck in there but they soon got him out.

However, this was another great step – he hadn’t forgotten how to walk, either. Another thing he seemed to not forget was the ability to become sexually aroused. His father was sat in critical care with me one time and Barry just decided he was going to show me how passionately he cared for me! He suddenly lunged at me from the side of his bed and tried to snog me, right in front of his dad, and the nurses! No matter who was in there, my mum or dad, or his family, he didn’t care. Eventually, it got quite out of hand, and the nurse said to him; “Now, Barry, we think this whole thing might be a problem with your heart so you can’t get frisky!”

It’s Something to do with the Heart
By Thursday, he was moved to the cardiac ward. He was, again, the youngest person just like he was in Critical. It wasn’t long until the doctors moved him into a side room. He was much more like himself now, and starting to remember things even more. When he was in Critical he had the memory of a goldfish. Things were getting better. Soon, they were talking about moving him to Queen Elizabeth Hospital, Birmingham. They had never seen this sort of record recovery and still to this day he has no brain damage of any sort except for when he was in critical care he cannot remember being there, or perhaps the day he was working.

The Taxi Ride
Waiting for a bed in Birmingham took about a week or so, and then we suddenly were told to get packing because the ambulance was here to take us to Birmingham. I rode with Barry, naturally. The “ambulance” was actually a taxi.  However, the driver doubles as a fully qualified paramedic and has all of the tools and kits in the boot if anything went a bit crazy. There are only 15 of them who operate in the area and I say thanks to them because the one we had was brilliant – his name was Bill. We soon got Barry settled into the new ward at Birmingham. Funnily enough, the first nurse we met was called “Rommie” which was funny because ‘Andromeda’ is one of Barry’s favourite shows and the ship in its human form is called “Rommie” for short.

We arrived in Birmingham on Saturday the 16th of June. Birmingham was very different to Walsgrave Hospital. Walsgrave was pristine in condition because it had just been rebuilt and had all new equipment – Birmingham was waiting for this makeover. Things seemed older and less inviting, but the staff were brilliant, and the people on the ward as well. The men on the ward were so nice and just had a laugh as often as possible, with everyone. This was more when Barry remembers things. He doesn’t remember any of critical care and a little of the cardiac ward. Barry says the best thing about this ward was the older men were more than willing to help him through this tough time. Barry was going to have an implantable cardioverter defibrillator (ICD) implanted into his body, and one of the men, Ron, already had one of these, so Barry got to converse with him about what it was like.

Soon, Barry was in surgery to have an ICD implanted. He was scared about the whole thing, as anyone would be, and so were we – but soon it was in and settled. The surgery had no problems and it was very funny because to this day, if you met Barry you would think that nothing like this had happened to him. He is exactly the same as he was before, with the addition of an ICD.

Laugh or Cry
One of the biggest things about dilemmas like this is whether you laugh or cry. At times, it was both. Here are some things that we look back on now, and can just smile about: we used to joke about Caroline giving Barry CPR – but now, we’re so thankful for it. We even would joke about Barry having a heart attack because of a tingling he gets in his hands sometimes. Now, we realize, its nothing to joke about.

Another thing that was a big laugh / worry was whether or not our love-life would be able to resume. The doctors said it could, and at first it was very very peculiar. At first, because Barry had had an angiogram, we had to put a pillow on his groin/leg area before we started anything. It was quite funny, and we just did it in increments. You can only go as fast as what you’re comfortable with. It was a funny experience, but very weird. We still both feel weird about it today. After not being around each other 24/7 like we normally were for about a month, and then suddenly going back to it, its very weird.

My best advice for people is give yourself time to adjust. A month is when all the heavy stuff comes out like the crying, the emotions, and everything else. After that, things slowly get better. Although you will always know that something is different, don’t let it rule your life. The worst thing for anyone who has had something like this, is not being able to drive. Barry can’t drive for 6 months, and if in that time he gets a shock from his ICD then that timer goes up and up. He hopes not to get a shock.

The Mystery – Still Unsolved
To this day, the doctors have no idea what happened or why Barry collapsed so suddenly. They’ve done an MRI scan, ECGs, an angiogram- everything, and cannot find a single cause or reason as to what happened, why, or what it was that actually happened. He still remains a mystery. The only thing that people can come to the conclusion of, seeing him from literally dead, and now where he’s exactly normal like he was before, is that he’s a walking miracle. I like to think that too.

David Hillson

Living with suspected arrhythmogenic right ventricular cardiomyopathy (ARVC)

In February 2008 I was out running with a friend. It was bitterly cold and I had not run over the Christmas period so this run was my attempt to ‘get back into it’!

I had always been fairly healthy, played football all my life (and rugby at University) but at the age of 29 I had kind of fallen out of fitness, so a run once a week was my small way of keeping fit.

Anyway, after 20 minutes of the run I felt dizzy and before I knew it, collapsed. After coming round, within minutes I passed out again, so my friend rang for an ambulance. It arrived within 10 minutes and I felt a little embarrassed by what I felt was a bit of a fuss.

On entering the Ambulance they took an ECG and my heart was beating at around 150bpm. They were a little worried as I had stopped exercising about 15 minutes before. Within minutes I was finding it hard to catch my breath and was rushed to hospital.

What I did not know at the time was that my heart had gone into ventricular tachycardia and was accelerating into a life threatening arrhythmia. On arriving at the hospital I was taken through A&E and ‘shocked’ (defibrillated) whilst still awake, to correct the arrhythmia. My heart had apparently almost reached 300bpm.

After the initial overnight observation and resulting stay in the hospital I was transferred to St Thomas’ Hospital in London for further tests. Its funny to reflect on this time, as the night I collapsed was the night before I was due to have a joint birthday party with a friend – all I was preoccupied about was whether I would be OK to go to that!

After a MRI, EP studies and consultation between the cardiologists they advised I have an implantable cardioverter defibrillator (ICD) fitted as they could not rule out the risk that I could be in for further arrhythmias. The doctors feel that I may have the condition known as ARVC and the ICD would act as the ultimate safety net. On receiving the news I was shattered. Though it had been inferred all week it was to be the most likely outcome, it still shocked me as I felt like my life had been altered forever.

So I had my ICD fitted the day after my 30th birthday. Once over my first few weeks of recuperating life pretty much got back to normal. Bike riding and lots of walking were my attempts back to ‘normal’ life. I have since qualified as a teacher and begun teaching in September 2008.

All seemed well until I received my first ‘shock’ from my internal ‘safety net’! I was playing 5 a side football – so was really pushing my heart to its limits perhaps.

It is odd that I have never had a single heart complaint in my life but suddenly this year it seems there is a real problem. However, it is comforting to find out (from sites like this, or being in hospital itself) that there are others out there who have had similar experiences – and like I try to think when reflecting on this: at least I am alive and typing this!

Coronary angiography and electrophysiological study (EPS)

Your doctor may suggest that you have tests such as coronary angiography or an electrophysiological study (EPS). Both these tests are performed in an X-ray laboratory that allows the body and any medical tools (such as cardiac catheter tubes or pacing wires) to be seen using an X-ray camera. You will be asked to lie down on a special moving table and will be given a local anaesthetic in your groin. The doctor will then place fine tubes, called cardiac catheters or electrodes, into blood vessels in your groin. These are gently passed through to the heart.

During coronary angiography the coronary arteries (the arteries that supply blood to the heart muscle) are injected with a dye to reveal any furring or blockages – coronary artery disease. (The ECG changes that are characteristic of Brugada syndrome or long QT syndrome (LQTS) can sometimes be caused by coronary artery disease.)

An EPS involves placing electrical leads inside the heart to analyse its electrical properties and induce arrhythmias. It may be useful in diagnosing Wolff-Parkinson-White syndrome (WPW) and progressive cardiac conduction defect (PCCD) and deciding on what treatment to give people with Brugada syndrome. If the extra pathway seen in WPW is detected at EPS it can be treated there and then by ‘burning’ it away using high frequency radio waves. This procedure is called RF ablation.

There are other tests that may be used to provoke ECG features in LQTS such as ‘cold pressor tests’. A stimulus such as placing your hands in ice-cold water can bring out the ECG features of the condition. This does not appear to increase significantly the likelihood of making a diagnosis but is still used at some centres.

Watch myheart member, Tim Butt, talk about the EP procedure he has had below.

Brugada syndrome

Read personal stories from myheart members with Brugada syndrome here.

Read about the drugs to avoid with Brugada here.

This condition was first identified in the early 1990s. It is an uncommon condition in the western world but seems to be much more common among young men in South East Asia.

In the western world it affects mainly young and middle-aged adult men. It has been associated with mutations in the same sodium channel that is affected in long QT syndrome, but this appears to account for only 1 in every 5 people with the condition. The sodium channel behaves abnormally in that movement of sodium ions into the cells is restricted. This results in particular changes on the ECG but no abnormalities in the structure of the heart. Other genes have been described as being involved in Brugada syndrome that produce calcium ion channels and a protein in the cell surface (membrane) that interacts with the sodium channel. They have, however, only been detected in a small number of carriers.

CRY Consultant Cardiologist Professor Sanjay Sharma talks about Brugada syndrome below. This video was published in 2011 – please note that the incidence of Brugada is now (July 2017) considered to be 1 in 2,000.

What are the symptoms?

Most people with Brugada syndrome may have no symptoms at all. In others, the most common symptoms are blackouts. Some people may notice palpitations due to ectopic (extra) beats.

Are there any physical signs?

There are no associated physical signs.

How is it diagnosed?

Diagnosis involves having an ECG. The changes characteristic of Brugada syndrome may appear on the ECG continuously or come and go, or they may not show at all. Sometimes the presence of a fever or certain medicines can bring out the ECG changes and this may be a period when there is higher risk of blackouts or cardiac arrest If they do not show up on the ECG, there are tests that can make the ECG changes visible. These are called provocation tests and involve having a short injection of an antiarrhythmic drug while you are having an ECG. The drugs most commonly used for this are ajmaline and flecainide. There is some controversy, however, about how much reassurance a negative result should give. Researchers have found that, in some carriers who have already been identified by genetic testing, changes on the ECG are not seen even with a provocation test. However, in these people the level of risk does appear to be low.

Genetic testing is not very useful for diagnosing Brugada syndrome because mutations have been found in only a small proportion of people known to have the syndrome.

Treatment and advice

If you are a carrier of Brugada syndrome you should avoid certain medications that might worsen your condition. You should also treat all fevers with medications that will reduce your body temperature such as paracetamol or ibuprofen. If your fever remains high you should attend hospital for an ECG or monitoring as required. It is standard practice for high risk carriers to have an implantable cardioverter defibrillator (ICD) fitted as this is a very successful form of protection. Unfortunately it can be very difficult for doctors to decide how to treat those people who do not get symptoms but who have an abnormal ECG. An electrophysiological study (EPS) may help to identify those people who do or do not need an ICD although there is great controversy about its true role. Research has suggested, however, that people with normal ECGs and no symptoms should be safe without any treatment. It is unusual for children to be at high risk.

Special advice about living with Brugada syndrome

There are certain things which have been shown to increase the risk of a dangerous heart rhythm in this condition, but that are readily avoidable. Two of these are having a high fever, and sleeping with a full stomach.

Fevers have been shown to increase the risk of developing the Brugada pattern on your ECG, which can in turn lead to a potentially fatal heart rhythm. Therefore if you have a fever, for whatever reason, you should treat this quickly and aggressively e.g. with paracetamol. If you are unsure what to do, or the fever does not subside, then seek medical advice.

Sleeping on a full stomach may seem like a very odd thing to mention! However there is science behind this.  In all people, having a full stomach stimulates a nerve called the vagus nerve, which can in turn affect the heart. In people with Brugada syndrome, this can trigger an abnormal heart rhythm at night. To avoid this, you should leave at least 2-3 hours before your last meal of the day and going to bed at night.

Watch CRY’s myheart cardiologist, Dr Michael Papadakis, talk about things to avoid if you have an ion-channel disease below.

Progressive cardiac conduction defect (PCCD)

Progressive cardiac conduction defect (PCCD) is a rare condition. In people with PCCD, the heart’s electrical impulses are conducted very slowly and this results in the gradual development over time of heart block. (Heart block is a failure of the heart’s electrical impulse to conduct properly from the top chambers [the atria] to the bottom chambers [the ventricles]). The severity of the condition and its associated risk can vary. PCCD can cause arrhythmias – either because the heart’s rhythm is too sluggish (bradycardia and asystole), or because of rapid rhythm disturbances (tachycardia) arising from parts of the heart that have escaped normal regulation. In some people PCCD has been associated with sodium channel mutations that cause changes in channel behaviour similar to those found in people with Brugada syndrome.

What are the symptoms?

Dizziness and blackouts are the usual symptoms, cardiac arrest may also occur.

Are there any physical signs?

There are no physical signs usually except if there is heart block when the doctor may feel a slow pulse.

How is PCCD diagnosed?

The ECG abnormalities may be detected either on a standard ECG or with Holter monitoring. An electrophysiological study may also help the doctor make a diagnosis.  If a sodium channel mutation is identified in affected members of a family then it may also be found in other relatives.

Treatment and advice

If you have PCCD you will need to have a pacemaker fitted in order to stop dangerous bradycardia from occurring. You may also need to take antiarrhythmic drugs. Some people may need to have an implantable cardioverter defibrillator (ICD) fitted instead of a pacemaker. Medication alone does not help.

Short QT syndrome (SQTS)

This rare condition is similar to but distinct from long QT syndrome (LQTS). As the name suggests the QT interval in carriers is shorter than in normal people. This means that the heart takes a shorter time to repolarise or reset itself,making it prone to ventricular arrhythmias. There is also an increased risk of a less dangerous arrhythmia from the top chambers of the heart (the atria) called atrial fibrillation. This is an irregular and rapid heart rhythm that may go unnoticed or causes breathlessness and palpitations. As in LQTS, potassium channel genes are affected but instead of allowing less potassium through they allow through too much too quickly.

What are the symptoms?

Palpitations, blackouts and cardiac arrest.

Are there any physical signs?

There are no physical signs usually except if there is atrial fibrillation when an irregular rapid pulse may be felt by the doctor.

How is it diagnosed?

The ECG abnormalities are usually detected either on a standard ECG or a 24-hour Holter. An electrophysiological study may also help the doctor make a diagnosis. Genetic testing may find a potassium channel mutation in affected members of a family that may then also be found in other relatives.

Treatment and advice

If you have short QT syndrome (SQTS) it is likely that an implantable cardioverter defibrillator (ICD) will need to be fitted in order to treat dangerous arrhythmias. Quinidine has been used in some patients but it is unclear whether it is safe to rely on medication alone. Tablets may also be used to treat atrial fibrillation.