I feel like me again by Nicole McShane

12 years ago, last year, last week or even yesterday; it doesn’t matter how long ago it was when they died of an undiagnosed genetic heart condition, unfortunately, they’re still not here today and the pain of losing them most likely won’t have subsided. However as time moves on, you’ll remember what it feels like to feel again. To feel hopeful and optimistic and dare I say it, happy. Of course between these occasional positive moments there will be regular feelings of hopelessness and a deep sense of loss, but this doesn’t last forever.

12 years ago I was almost 14 and my aunt was 13. She died. She’d passed out many, many times from the age of 7. She’d given up almost all physical activity. Relaxing and ‘taking it easy’ indoors became the norm on warm summer days, getting over excited was cautioned against, surely not what you’d expect for children! Her blackouts became part of our normality, that was until one day when she would pass out, faint, black out for the last time, die for the first time. It didn’t matter what we’d call it, she just wasn’t coming back. A loved daughter, aunt and niece gone, leaving a whole family devastated, for a second time. We’d later find out that what went undiagnosed was a genetic heart condition, though it would be some time before we’d discover which, of the many it was. It may seem as though I’m making light of this truly traumatic time, however I feel I can only speak this way now because of time itself.

4 months later, school had finished that day for summer. I was due to perform solo on stage to an audience of 200 for the first time at an end of year celebration. I clearly remember walking on stage. I next remember holding my granny’s hand in a hospital bed (I was in the bed). I was so concerned that the nurses would be judging my dreadful costume and I was terribly confused as to why I was there. I later found out that I’d walked on stage, got most of the way through my performance before passing out, just as my aunt had many times before. It was happening again, my family thought. As a naive teenager I protested that I wasn’t the same, it had never happened before on stage, I was just nervous this time, it was the heat, I hadn’t eaten enough that day, I’d exercised and played sport a lot and it never happened me the way it happened to her – the adults in the family were having none of it!

4 weeks in hospital, during the school holidays followed as did many tests. It became apparent quite quickly that I had an irregular heart beat rhythm. I thought this was great – I know what’s wrong, can I leave now and enjoy my summer holidays please? NO. They needed to pin down which heart condition I had. I was bored. The sun was shining. I had too many leads keeping me within a short distance of my bed in the “old people’s” ward. I wanted to be out enjoying the sun on my holidays. I simply could not have the same condition as my aunt, I haven’t had a single symptom since. I haven’t passed out since. They can’t find a condition that I’ve got. Just LET ME GO HOME! But no, that treadmill test was the only one that faithfully highlighted that my heart beat was irregular. The weeks went by, frustration mounted and then I was informed – You’re having an ICD implanted. A what now?


No, they hadn’t figured out what was wrong with me. They just decided that having this large box put in my shoulder was the best precaution they could come up with to allow me to live a “normal” life. To say I was reluctant would be an understatement. I had no choice. My parents and the doctors were in control as I was not legally old enough to consent. As a hormonal teenager, I was not the most pleasant person to my parents at this time. They did this to me and there was ‘nothing wrong with me!’

The operation went ahead. My first t-shirt afterwards had to be cut off as I couldn’t raise my arm high enough to remove it. I spent the rest of the summer living in vests which were easy to remove and scarves which covered the wound plaster. To the dismay of my parents I was on my bike the day I returned from hospital – I could only reach one handlebar (it wasn’t the best decision I’ve ever made).

Rumours of me almost dying had just barely subsided when I returned to school that September. Though it was not the same, I was no longer allowed to take P.E as a GCSE option, I wasn’t even allowed to participate in any of the P.E lessons – this was incredibly difficult for me to deal with – I was competitive and had always loved P.E. Outside of school when I played football with my friends, I was rarely passed the ball now and no-one dared to tackle me on the field. My whole world had changed. Oh and I had this lump in my chest and a horrid scar as a result of an infection when healing. Life had reached a new low.

18 months later I was figuratively speaking, dragged, to see a psychologist. I said nothing for the first two sessions because ‘I was fine and didn’t need to be there’. In the third session I just cried, in the fourth we finally started talking. I hated going every week. However, with the power of hindsight and perhaps a dash of maturity I can say that those sessions were one of the most beneficial things to aid my recovery. My body had long healed. My family were more than supportive. But my head was messed up after my world had been shaken harder than a magnitude 10 earthquake. The sessions certainly weren’t an instant fix but they did a lot to help.

I eventually got a diagnosis. CPVT. Catecholaminergic polymorphic ventricular tachycardia, what a mouthful! I remember being relieved – who would have thought? It meant that all of this hadn’t been for nothing. Nothing really changed with diagnosis other than having peace of mind. I continued to be treated medically in the same way – I just knew what I was being treated for now. My mum and granda also had the same condition and mum would later have an ICD fitted too.

3 years after having my ICD implanted, I was sat in an English lesson and I began ringing like and old mobile phone. I didn’t know at the time, but my battery was low and I was due for a replacement. It went smoothly and the scar was much more incognito than the first.

Life went on as ‘normal’. I was now used to having this thing in me. I knew how to field the questions that came when wearing a vest or bikini in new company. I knew what to say when asked why I wasn’t drinking that jagerbomb. I knew what to say when everyone else was going scuba diving and I was sitting out. I still struggle to communicate just feeling tired for doing nothing. I still struggle to express that I physically don’t have the energy to have a shower right now. I still struggle.

At some point in 2015 I first attended the gym with a friend that knew me well and all I’d been through. They talked me through the equipment and how to use it. They understood how to push me just enough that I was pushing myself but fully understood the difference between ‘my heart can’t do this’ and ‘I’m just not trying right now’. These gym sessions were a far shout from the adrenaline junkie roller coaster rides and roller blading I loved in the past but despite being new to me, I felt like I’d missed them. Over the next few years I began going to the gym, attending gym classes, playing recreational netball, I began regularly riding my bike – I was beginning to enjoy many of the things I had done before my life came crashing down. I even took adult swimming lessons and had a surf lesson. I moved away from home again and began commuting to work on my bike. Until one Friday when that old mobile phone sounded again. I was due another battery replacement.

I lived alone over 100 miles away from family; how would I cope? is how some people might have felt. For some reason I felt I could do this on my own this time. I mean I’d mastered the side plaits. I’d get the bus to work, what else would I need? I scheduled my operation for the beginning of the 2 week Christmas holidays. I returned to see my family over the same period and my, my, wasn’t I glad. There were many silly things I’d forgotten that I’d need support within the seven and a half years since my last operation. Though nothing so defeating to prevent my from returning to work as normal after Christmas. A kind colleague offered me a lift for a while and before I knew it, I was back to riding my bike to work again. That first cycle was difficult. The first gym class was worse! Where had my fitness gone?

I vividly remember fighting to the end of the 11minutes it took me to run 1km on a treadmill. After all the effort I’d been putting in the gym before my operation, my PB’s seemed like they’d belonged to someone else. But I needed and wanted so badly to get back to that level. Every gym weight felt like 10 tonne! I gave up. I’m not a defeatist person, I turned to a new challenge. A year prior my mother had run two 5km races. She is not into exercise and had never done this before. I was 20 years younger and struggled to run 1km; yes I have a heart condition, but so does she! I could do this! (It never once felt like I could). But I did! I trained and I found it boring and difficult but I finished my first 5km park run in 33:25 and I even enjoyed! Or at least I enjoyed it enough to do it again. This time I did a 5km Santa Run in aid of CRY and raised £220 as a result.

I’d go on to do 5km park runs twice monthly, summit Angel’s Landing in Utah, USA in 30+ degrees; climb Croagh Patrick and Culcaigh Mountain at home. And finally after two failed attempts, (one due to weather, one due a shock from my ICD) climb Mount Errigal. By this point I was back attending gym classes and soon to be hitting my late twenties, I began thinking about my ‘before aged 30 bucket list’ – triathlon was still unticked.

Yesterday I completed a novice triathlon! It felt amazing! It was the first time in longer than 12 years where I truly felt the zest for life that I guess I’ve always had but that had somehow got a little dusty. The training was difficult. There were many a days when my heart just could not do it despite having trained harder at other times. These are the days when it’s easy to feel hard done by and get a sense of feeling sorry for yourself. But that achieves nothing. It doesn’t make you feel good mentally or physically. Today is a bad day but this evening or tomorrow will be better.                            

I’ve never spoken publicly about my heart in this way before; but something in yesterday inspired me. After 12 years I wanted to share my story. It’s hard, it really is at times, but that’s a side I only barely let my family see. They know I’m more than my heart condition and I know I’m more than that, even when they have to remind you to think of all that you can do and have done when you’re jealous of their planned Thorpe Park escapades.

Having a heart condition sucks. There will be hard times, but there is also pretty spectacular times. It’s important to just pick yourself back up and let the heart keep beating!

Nicole McShane

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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.

Hayley Brown

Living with long QT syndrome

I was 19 years old and had just failed my second driving test when my first and only attack happened. I ran through the garden and into the house where my mum was waiting nervously. I told her that I had failed and then went on to tell her I didn’t feel very well, but I collapsed and lost consciousness so never got to finish my sentence. 

I remember waking up in the kitchen and hearing my mum on the phone to someone. I had lost control of my bodily functions and because I had fallen on my left side, my arm was tingling.

The next thing I remember is my dad arriving and I could hear him shouting my name as he ran down the garden path. I was rushed to hospital and had several tests done but I was allowed home that night.

Initially the doctors thought I was epileptic and I spent months seeing neurologists. Its fair to say that this was an extremely frightening time for me and my family. However, the results of numerous scans was that my brain was fine – but my ECG from when I was originally taken in didn’t look right.

I was then referred to John Radcliffe hospital and was admitted for the day for several tests, including ECGs, adrenaline tests, scans and the dreaded treadmill test! They diagnosed me with long QT that day and I’d like to think that I took the news relatively well. I was told that my condition is hereditary and that I had had it since birth. I was put on beta-blockers and cautioned to not over exert my body. I have since had genetic counselling to see where the condition came from, but it came back as inconclusive.

Since then I have had no further attacks. I maintain a healthy lifestyle and I am a keen kick boxer. I climbed Snowden for charity last year and I was determined that long QT wouldn’t stop me reaching the top of that mountain!

I was terrified when I was diagnosed that life would never be the same again and I hope my story will help anyone out there who feels that way at the moment. Overcoming this diagnosis has been one of the hardest but most rewarding things I have ever done and I am living proof that this doesn’t have to rule your life. You take your tablets, take life one step at a time and make the best of the hand you’ve been dealt and it’s not as bad as you think.

Julia Hubbard

Living with right ventricular outflow tract ventricular tachycardia (RVOT-VT)

I have represented Great Britain in Bobsleigh since 2006 and In October 2007 I crashed in a race and sustained fractured vertebrae and tore all the ligaments in my thoracic spine. I was out of the sport for the rest of the season while I recovered and had rehab.

In April 2008, a month after returning to training, I began to feel dizzy, faint and breathless while I was training.

My heart would feel like it skipped a beat and then race out of control – over and over again while I trained. I went to the doctor who did a basic ECG and told me it was stress and signed me off work for a couple of weeks.

Initially I was only getting symptoms in the gym and track so I was sure it wasn’t stress. I called my team doctor who immediately called me to the Olympic Medical Institute for an exercise ECG. I met Greg Whyte and some of the CRY team and less than two minutes into the test my symptoms started and the test was suspended and I was rushed straight to hospital for an echocardiogram. A week later I was back in London for more tests and an MRI scan. My ECG and symptoms were consistent with two conditions – arrhythmogenic right ventricular cardiomyopathy (a condition that can cause young sudden cardiac death) and right ventricle outflow tract – and they had diagnosed which I had. I was diagnosed with right ventricular outflow tract ventricular tachycardia (RVOT-VT).

The treatment was a lifetime on beta-blockers, which pretty much ended my chances of continuing with competitive sport! As soon as I took the beta-blockers I felt great – my symptoms stopped and I could start to train. I just managed to retain my place on the GB team for the 08/09 season but over the next few months my fitness just got worse and worse. I ended up as a reserve for the season and every time I tested my power, speed and strength, my scores were declining at an alarming rate. In March 2009, I came off the medication as I was so unhappy with the effect it was having and my symptoms returned even more severe than before. I decided to try and live with it, which turned out to be impossible.

I was exhausted all the time – sleeping 10 or 11 hours a day – and at its worst I couldn’t even walk without feeling faint. I couldn’t complete a full training session and was devastated, I just felt ill all the time. I lost my place on the GB team and with it my health insurance, so CRY stepped in and put me in touch with Dr Sharma [now Professor Sharma] who has been monitoring me ever since.

He has explained the condition and the triggers which are not completely understood, but for me appear to be a combination of adrenaline, exercise and stress. RVOT-VT is caused by an extra natural pacemaker that starts firing as well as the main pacemaker and causes the heart rate to shoot up and all the symptoms I experience.

In December 2009, as mysteriously and suddenly as my symptoms started, they virtually stopped. I have been able to start training fully again. I decided to compete in Figure Competitions (a type of women’s bodybuilding) as I needed a goal to aim for and I have placed second in three competitions this year and qualified for next year’s British Finals.

My goal is to compete internationally in 2011 in Figure Competitions. I have also decided to train for the World Master Athletics Championships in 2011. In November this year I was able to return to international Bobsleigh, competing in a European Cup race and achieving a start placing top 10 in the field, which I was really proud of considering I never thought I’d race for Team GB again!

I know my symptoms can return at any time so I am enjoying feeling well and making the most of being able to train again. I also now have the support of CRY and Professor Sharma, so as soon as the symptoms return to the severity I had before, I will have a radiotherapy ablation to cure the problem.

Although the thought of surgery is a bit scary, just knowing that there is a cure if and when I need it, means I don’t have to worry any more. In the meantime I fully intend to make the most of every opportunity I have!

In February 2010 I competed in the British Masters Indoor Athletics Champs and won Gold in both the 60m and 200m for my age group (W35). Now I’m aiming to compete at the World Masters Athletics Champs in the summer – as long as the condition doesn’t get worse I think I could do well! It’s funny, a year ago I didn’t think any of this could be possible and although I know I could get ill again, I know it can be treated so I’m not worrying about it! Just enjoying life and never taking my health for granted any more – just making the most of every day!

Exercise test (also called an exercise ECG)

This test is the same as the ECG but is recorded before, during and after a period of time spent exercising on a treadmill or an exercise bike.

This allows the doctor to examine any changes in the electrical patterns that occur with exercise, and analyse any abnormalities. This test is particularly useful in detecting some of the features that are characteristic of long QT syndrome or catecholaminergic polymorphic ventricular tachycardia.

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

Read personal stories from myheart members with ARVC here.

The incidence of arrhythmogenic right ventricular cardiomyopathy (ARVC) is now thought to be higher than previously believed (affecting 1 in every 1000 individuals), due to the availability of better diagnostic techniques and general awareness of the disorder amongst the medical profession. ARVC was first recognised in the late 1970’s. It is anticipated that even more information regarding ARVC will be available in the coming years, to help us understand the natural history of the condition.

What causes ARVC?

ARVC is caused by a defect in the ‘glue’ that holds the muscle cells of the heart together, working as a unit. When stretched the ‘glue’ breaks down, the muscle cells separate and an inflammatory process begins to repair the break. In a way the heart muscle sustains an injury that the body attempts to repair. As this process is repeated there is a progressive replacement of the normal heart muscle cells by scar tissue and fat. Initially this may only involve small areas of the right heart but later on it becomes global and may even involve the left side.

ARVC is inherited, passed on in the genes from one generation to the next. The pattern of inheritance is such that the child of an affected parent has 50% chance of inheriting the condition. The disease affects men and women equally and has been recognised in people of diverse ethnic origin.

What are the symptoms?

Clinical presentation is usually with symptoms of palpitations (feeling the heart pounding) because of a fast and irregular heart rhythm. The irregular heart rhythm may be associated with light-headedness or fainting episodes. Unlike most cardiomyopathies, shortness of breath and chest pains are unusual symptoms and tend to occur at the later stages of the disease.

How is it diagnosed?

The diagnosis of ARVC can be extremely difficult and usually requires specialist expertise. Your doctor will usually start by asking you some questions and examining you. Most of the investigations are painless and non-invasive, similar to those performed in the diagnosis of hypertrophic and other cardiomyopathies. Initial investigations include a tracing of the electrical activity of the heart (ECG) and an ultrasound scan (echocardiogram). As with hypertrophic cardiomyopathy (HCM), the ECG is very sensitive in picking-up ARVC since up to 80% of individuals with the disease will have an ECG abnormality. The echocardiographic features, however, can be very subtle in the early stages of the condition, often confined only to the right ventricle and therefore further imaging of the right side of the heart is required in most cases with a magnetic resonance imaging scan (MRI). Further evaluation includes an exercise treadmill test and a 24-hour Holter monitor (tape) in an attempt to capture the irregular heart rhythms. In some specialist centres further invasive investigations are performed in an attempt to identify the electrical faults of the heart muscle associated with ARVC (electrophysiological studies) and to biopsy part of the heart muscle and examine it under the microscope. These investigations, however, are not widely accepted, they are still being developed, can still miss ARVC, which affects some areas of the heart but not others and can be associated with potentially serious complications.

Advances in molecular genetics (DNA) means that in some centres, the condition may be diagnosed using a blood test. This test, however, is not available in every hospital, it is expensive, the results may take up to several months and it is not always positive in ARVC patients (we are able to identify a defective gene in 60% of clinically confirmed ARVC patients). It can be used after the clinical evaluation to confirm the diagnosis or in the context of family screening.

Treatment and advice

The majority of patients with this condition have no symptoms for many years unless irregular heart rhythm develops. Treatment in the majority of cases aims to prevent or at least control the irregular heart rhythms.

If your tests prove positive your specialist will advise you on lifestyle modifications. You will most likely be advised not to participate in competitive, strenuous activities.

Watch CRY’s myheart cardiologist, Dr Michael Papadakis talk about things to avoid with cardiomyopathy below.

Drug treatment may also be used to control the irregular heart rhythms. Drugs may include beta-blockers, amiodarone or sotalol.

In cases where drug treatment is unsuccessful in controlling rapid heart beats, an implantable cardioverter defibrillator (ICD) may be fitted. This is similar to a pacemaker where a box is implanted under the skin in the chest. The box has a fine wire which is attached to the heart to record and deliver electrical impulses in the presence of an abnormal heart rhythm.

It will be necessary for you to have at least annual check-ups which usually will include a repeat of the initial investigations. Since the disease runs in families, all first degree relatives of the affected patients have to be screened with ECG and Echocardiogram.

Dilated cardiomyopathy (DCM)

In dilated cardiomyopathy (DCM) the main pumping chambers of the heart are dilated and contract poorly. This results in a reduced volume of blood (low output) pumped around the body which fails to meet the body’s demand and features of what is commonly known as heart failure. There is a build up of fluid in the lungs and under the skin, which manifests as breathlessness and swelling of the legs and abdomen, respectively.

We are able to identify a specific cause for dilated cardiomyopathy in about 50% of patients. In the other 50%, however, the cause remains uncertain. The commonest causes of DCM in western societies includes coronary artery disease (narrowed coronary arteries) which may lead to reduced blood flow to the heart muscle and a heart attack resulting in ‘death’ of part of the muscle and a weak heart. Other common causes include longstanding high blood pressure, excessive alcohol intake and heart valve disease. Less common causes include viral infections, autoimmune diseases i.e. the body’s own defences mistakenly attack the heart muscle cells resulting in damage to the heart muscle, deficiency of several vitamins and other rare conditions.

In dilated cardiomyopathy, antibodies against the heart are found in approximately 30% of patients and in a similar proportion of the asymptomatic relatives. This and other evidence suggests that an autoimmune component may play an important part in the development and progression of dilated cardiomyopathy. The significance of the cardiac antibody in individuals without symptoms is under study.

CRY Consultant Cardiologist Professor Sanjay Sharma talks about dilated cardiomyopathy (DCM) below. This video was published in 2011 – please note that life expectancy following a diagnosis of DCM is now (July 2017) much better than in 2011.

Pregnancy

There is a form of dilated cardiomyopathy which develops during late pregnancy and in the period shortly following childbirth. The cause is uncertain but it is believed that the additional demand of pregnancy on the heart may be triggering factor in the development of the condition.

Genetics

Recently it has become apparent that dilated cardiomyopathy is inherited in at least 25% of cases. All first-degree relatives of patients diagnosed with DCM of unknown cause (idiopathic) should be screened to exclude the condition. Evaluation of the family has potential to clarify the genetic contribution to the development of the condition within individual families.

What are the symptoms?

Symptoms depend on the stage and evolution of the condition.

  • Shortness of breath– This is a common symptom which becomes worse with exertion.  It is caused by the build-up of fluid and elevated pressure in the lungs. When severe, there may be marked breathlessness at rest or even when the patient lies in bed. Patients may feel more comfortable sitting-up in bed by adding extra pillows or may experience sudden bouts of breathlessness which wake them up at night.
  • Lack of energy – If the heart is not pumping well and the body is not getting enough blood the muscles are unable to contract normally and easily become tired.
  • Ankle swelling– When the right side of the heart fails to expel the blood it receives, the fluid builds up in the body tissues. This is called oedema and usually presents initially with swelling of the ankles which can then extend up to the thighs, back and abdomen.
  • Chest pain– This may occur at rest or during exercise. Though the cause of the pain is usually not clear, it is important to exclude significant coronary artery disease i.e. angina.
  • Irregular heart rhythm– Irregular heart rhythms are a common complication. The heart can either beat irregularly, too rapidly (tachycardia) or too slowly (bradycardia). Such arrhythmias are often asoociated with an uncomfortable awareness of the heart beat (palpitations) and/or accompanied by dizziness and fainting.

How is it diagnosed?

Your doctor will usually start by asking you some questions and examining you. An electrocardiogram (ECG) should be performed followed by an echocardiogram. The echocardiogram provides images of the heart with measurements of the size of the chambers as well as determination of how well they contract. It may also provide evidence of the cause of dilated cardiomyopathy. Exercise testing, either on a treadmill or a bicycle, should be performed to stress the heart. This test is particularly useful as symptoms and abnormal heart rhythms may not be obvious at rest and only become apparent during exertion. Monitoring the heart rhythm with a continuous tape recording is also important to detect arrhythmias which may not be symptomatic. It might be necessary for you to have further investigations.

Treatment and advice

Treatment aims to improve the symptoms of heart failure, prevent complications, particularly those arising from the development of arrhythmias, improve the heart function and prolong life.

Lifestyle modification plays a pivotal role to DCM treatment. Your doctor may discuss the following things with you.

Reducing all cardiovascular risk factors:

Stop smoking with the help of smoking cessation clinics.
To improve dietary habits in order to lose weight, reduce the cholesterol and the salt in the diet. An expert dietician’s review can be very helpful.
Good control of the blood sugar if the patients is a diabetic.
To monitor and aggressively treat high blood pressure.
Regular exercise. The NHS provides exercise clinics run by expert nurses.
Limiting alcohol intake to the minimum possible. Current evidence suggest that no more than a small glass, preferably of red wine, should be consumed in a day.
Limiting fluid intake according to the physicians/specialist nurse advice.
Daily weighings using a reliable scale. Sudden, excessive increase in weight may be a sign of fluid built-up and may predate clinical signs by several days, acting as a warning sign.

Watch CRY’s myheart cardiologist, Dr Michael Papadakis talk about things to avoid with cardiomyopathy below.

The mainstay of heart failure treatment is drugs. It includes water tablets (diuretics) to get rid of excess fluid, angiotensin converting enzyme inhibitors (ACE-i) and beta-blockers. Other drugs may be necessary should symptoms persist on first-line treatment. Please note that ACE-i and beta-blockers have an abundance of evidence supporting their use in DCM and every patient should be on them unless contraindicated or significant side-effects arise.

When medical treatment fails device therapy may be necessary. This includes the insertion of specialised pacemakers under the skin that help the heart beat more efficiently. A small number of patients with dilated cardiomyopathy who do not respond to the above treatments may be referred to a specialist centre for assessment of the potential for cardiac transplantation. Strict criteria apply to the selection of patients in order to assure a successful transplantation.

Read myheart member, Paul Cowling’s story of living with dilated cardiomyopathy here.

Hypertrophic cardiomyopathy (HCM)

Read personal stories from myheart members with hypertrophic cardiomyopathy here.

Hypertrophic cardiomyopathy (HCM) is a condition where the heart muscle becomes thickened.

Traditionally, the term HCM was used for disease caused by abnormalities in genes which make the proteins responsible for contraction of the heart (sarcomeric contractile proteins). More recently the definition of HCM has been broadened to include a number of other conditions that result in thickened heart muscle. It is a hereditary disease i.e. it is passed on from parents. In the majority of cases the condition is inherited from a defective gene of one of the parents in such a way, that if a parent has an abnormal gene then each child has a 50% chance of inheriting the disease.

It is a disease that can affect both men and women of any ethnic origin. The condition is present from conception and excessive growth of the muscle may begin before birth when the foetal heart is developing. In a healthy adult heart, the muscle fibres are arranged in an organised fashion and their thickness does not exceed 12mm. In the HCM heart, however, the muscle becomes excessively thick and the fibres are arranged haphazardly making the heart vulnerable to some dangerous heart rhythms (ventricular fibrillation or ventricular tachycardia). The heart muscle also may thicken in individuals who have high blood pressure or who participate in prolonged athletic training, but in HCM patients the muscle thickens without an obvious cause.

What are the symptoms?

Symptoms and severity can vary from person to person.  They may begin in infancy, childhood, middle or elderly life.  No particular symptom or complaint is unique to HCM sufferers.  Most patients never experience any symptoms, thus affected individuals are often diagnosed during ECG screening or family screening.

The most common symptoms of HCM are:

shortness of breath
chest pains (usually brought on by physical exertion)
palpitations (rapid, irregular heart beat)
light-headedness, blackouts.

If you suffer from any of these symptoms it does not mean that you necessarily have HCM but if you visit your GP, he or she may suggest that you undertake some tests or may refer you to a cardiologist (a heart specialist).

How is it diagnosed?

Diagnosis involves having an ECG and an ultrasound scan of the heart (echocardiogram). The great majority (up to 98%) of individuals with HCM have an abnormal ECG, alerting the physician to the possibility of underlying heart disease. Although the echocardiogram is the gold standard test in the diagnosis of this condition, occasionally the ECG may become abnormal long before the excessive thickening of the heart can be observed in the echocardiogram. In individuals with a diagnosis of HCM or high index of suspicion, further tests with an exercise treadmill test and a 24-Holter is required. In some cases further imaging of the heart may be necessary using a magnetic resonance imaging scan (MRI).

Genetic testing can identify carriers of the HCM gene. Unfortunately, this form of testing is limited at the moment, as 3 in every 10 people who are known to have HCM do not have mutations of the genes known to be associated with HCM. An additional problem is that many families who do have the mutations appear to have a specific change to the DNA code which is not found in other families (known as a ‘private’ mutation). This sometimes makes it difficult to decide whether a mutation is causing the disease or not. Things are further complicated because people with the same mutation can have effects of varying severity. However, when a well known HCM gene is identified, it can be used after the clinical evaluation to confirm the diagnosis or in the context of family screening

Treatment and advice

There is no cure at present for HCM. Treatment is aimed at preventing complications and improving symptoms. Treatment can be obtained through lifestyle modification advice, drugs, specialised pacemakers, or in some cases, surgery.

If your tests prove positive your specialist will advise you on lifestyle modifications. You will probably be advised not to participate in competitive sport and strenuous activities.

Watch CRY’s myheart cardiologist, Dr Michael Papadakis talk about things to avoid with cardiomyopathy below.

For many people the condition should not significantly interfere with their lifestyle and can be controlled by drugs. Drugs are given initially when a patient presents with symptoms. A variety of drugs are used in the treatment of HCM and the choice of treatment will vary from patient to patient. However, in patients with severe symptoms, who do not respond to medical treatment, surgery may be suggested. A surgical myomectomy, where muscle is removed, is usually successful in the relief of symptoms. The operation involves removing a portion of the thickened muscle, which relieves the obstruction.

There are other forms of treatment, which are occasionally recommended for people with HCM.

  • Electrical cardioversion– This is for sufferers of atrial fibrillation (irregular heart beat), which is quite common in HCM patients.  It is carried out under general anaesthetic and involves the patient being given a small electric shock to the chest which restores the normal heartbeat.
  • Pacemaker– In HCM sufferers the normal electric signal may fail, and if so a pacemaker can be fitted.  This is a small box containing a battery which is placed in the chest under the skin and ensures the heart receives the necessary electrical signals.
  • Implantable cardiac defibrillator (ICD) – In cases where a rapid heart beat is seen that could potentially cause cardiac arrest, and cannot be controlled by drugs, an ICD may be fitted. This is similar to a pacemaker where a box is implanted under the skin in the chest. The box has a fine wire which is attached to the heart to record and deliver electrical impulses in the presence of an abnormal heart rhythm.

What should you do if you are diagnosed with HCM?

If your tests prove positive your specialist will advise you on lifestyle modifications.  You will probably be advised not to participate in continuous strenuous activities e.g. competitive sports.  For many people the condition should not significantly interfere with their lifestyle and can be controlled by drugs.  It will be necessary for you to have at least annual check-ups.  However, the severity of the disease varies from person to person and even if you have been diagnosed with HCM you may not necessarily present any symptoms and can live a fairly normal life.  Since the disease runs in families, all first degree relatives of the affected patients have to be screened with ECG and an echocardiogram.

Long QT syndrome (LQTS)

Read personal stories from myheart members with long QT syndrome here.

Download our LQTS information leaflet

Long QT syndrome (LQTS) is an ion channelopathy. Ion channelopathies (also sometimes referred to as arrhythmia syndromes or cardiac channelopathies)affect the electrical functioning of the heart without affecting the heart’s structure. They are a group of rare genetic conditions that are caused by abnormalities of the DNA known as mutations. They are usually inherited from parents although they can occur for the first time in a person. (If they occur for the first time they are described as sporadic.)

The mutations affect certain genes – specific segments of the DNA that are responsible for the production of cardiac ion channels. An ion is a chemical substance – such as sodium, potassium or calcium – that carries an electrical charge and forms the basis of the movement of electricity through the heart muscle. Each heart muscle cell is surrounded by a membrane that separates the inside from the outside of the cell . An ion channel is the route (the gate) that the ions take in and out of the heart muscle cells to allow the movement of electricity. The ion channels regulate the flow of electrical charge. If these channels do not behave normally, the electrical function of the heart becomes abnormal. The person can then be prone to arrhythmias (disturbances in the heart’s rhythm) that may cause blackouts or a cardiac arrest.

LQTS is the most common and best understood type of channelopathy.
It occurs in about 1 in 2,000 people. In 70% of people with LQTS, gene testing can identify the ion channels involved. In most cases two of the potassium channels that regulate the movement of potassium ions from the inside to the outside of the cell are affected. In a small proportion of people with LQTS, a sodium channel that regulates the flow of sodium ions from the outside to the inside of cells is affected.

In people with potassium channel associated LQTS, the channels do not behave as efficiently as normal. They let potassium ions into the cell too slowly. If the sodium channel is affected, too many sodium ions are allowed into the cell.

This results in an electrical disturbance in the cells of the heart called prolonged repolarisation. This can be seen on an ECG recording as a lengthening of the time period known as the QT interval.

What are the symptoms?

LQTS varies greatly in severity. Symptoms vary according to the type of channel involved, whether the person is male or female, their age, and the length of the QT interval on the ECG. Males are more likely to have symptoms before puberty, while females are more likely to have them in adolescence and early adulthood. Relatives from the same family who have inherited the same mutation may have very different experiences. For example, some may have a normal QT interval and not have any symptoms; some may have a very abnormal QT interval but no symptoms; and some may have a very abnormal QT interval and have many symptoms that put them at risk.

The most common symptom of LQTS is blackouts. Sometimes palpitations due to extra or ectopic heartbeats can be a problem.

Are there any physical signs?

There are usually no physical signs of LQTS. However, certain rare forms of LQTS may be associated with muscle weakness, minor abnormalities of the skull, chin, fingers and toes or reduced hearing.

How is it diagnosed?

Diagnosis involves having an ECG. Sometimes it is possible to tell which ion channel has been affected just by looking at the ECG recording. Unfortunately, in a proportion of people who might be carriers, the ECG may not show any sign of the condition. Repeated ECGs, exercise tests and 24-48 hour tape monitoring may be needed before the diagnosis is established. More recently some doctors have used slow injections of the hormone adrenaline (epinephrine) via a drip to try and improve the diagnosis of some potassium channel LQTS. There is no evidence however that this is any better than an exercise test.

Genetic testing can identify carriers of the LQTS gene. Unfortunately, this form of testing is limited at the moment, as 3 in every 10 people who are known to have LQTS do not have mutations of the genes known to be associated with LQTS. An additional problem is that many families who do have the mutations appear to have a specific change to the DNA code which is not found in other families (known as a ‘private’ mutation). This sometimes makes it difficult to decide whether a mutation is causing the disease or not. Things are further complicated because people with the same mutation can have effects of varying severity.

Treatment and advice

If you have LQTS, your doctor will advise you to avoid excessive exercise or strenuous athletic activities. He or she will also advise you to avoid certain drugs that can make the condition worse and which could increase the risk of blackouts and cardiac arrest.

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

Other treatment options will vary depending on the severity of the condition. Those with one or more of the following features will likely need more intervention than those without:

a previous cardiac arrest
blackouts
a very long QT interval on the ECG
sodium channel mutations
some potassium channel mutations
young, adult women.

Drugs

The most commonly used drugs for LQTS are beta-blockers. These block the effects of adrenaline and associated natural chemicals in the body that make the heart pump harder and faster. They therefore also block the effects of exercise on the heart. They are effective in the most common forms of LQTS as they reduce symptoms and the risk of cardiac arrest. However, they are less effective in people with the sodium channel form of LQTS.

There are other more recent trends in drug treatment that look promising, but their long-term benefits are unknown. These involve using antiarrhythmic drugs. These drugs block disturbances in the heart rhythm. Potassium supplement pills have also been tried with occasional success.

Pacemaker or implantable cardioverter defibrillator (ICD)

If you are at high risk (for example if you have already had a cardiac arrest), or if drugs have failed to control your symptoms, your doctor may advise you to have a pacemaker or an implantable cardioverter defibrillator (ICD) fitted, as well as taking your medication. A pacemaker and an ICD both consist of an electronic box that is inserted under the skin and attached to the heart by special electrical ‘leads’. A pacemaker controls the heart rate and stops any excessive slowing of the heart that could trigger an arrhythmia. An ICD acts in the same way as a pacemaker but it can also identify any dangerous arrhythmias and deliver an electrical shock to reset the heart.

Surgery

Another option for high risk patients is to perform surgery to disrupt the nerves that release adrenaline and related chemicals at the heart. This is performed in only a small minority of individuals and is known as cervical sympathectomy and involves operating on the left side of the neck.