Jessica Goddard

Living with long QT syndrome

Jessica Jane Goddard was born on the 27th July 2007. She was 3 years old when in May 2010 we received a phone call that would change her life forever…

My name is Rebekah Goddard and I am Jessica’s mother. I was diagnosed with long QT syndrome in July 2001 at the age of twenty-five, after a series of massive seizures that starting occurring just after my eighteenth birthday. It was my father who effectively saved my life on the day of that first episode. When he found me, I wasn’t breathing and didn’t have a pulse. It was his quick actions and medical training from his RAF days that effectively saved my life. To this day my dad struggles to discuss what he remembers about the day he found me.

As a mother, I cannot even begin to imagine what must have gone through my parents’ minds finding their daughter in such a way. Then later, discovering that the first initial seizure with long QT syndrome has such low survival rates… No parents should have to worry about burying their own child. This is now a worry that I have to deal with on a daily basis with my own child.

I married my husband Ian, two months after getting my own diagnosis of long QT, and having a pacemaker fitted. A couple of years later, we discussed the possibility of having children, and that’s when I hit a stumbling block. At the time, there seemed to be very little information about pregnancy and birth, as well as the possible effects of my condition on my unborn child. So after gathering information to the best of our abilities and a lot of discussion, we decided that with a 50/50 chance of me passing on my condition, we should go ahead and have children.

Our first child, Grace Elizabeth Goddard was born by scheduled cesarean section at Yeovil District Hospital on 27th August 2004.

To say the operating theatre was packed would be a massive understatement! It seems the world and his wife had appeared out of the woodwork to witness Grace’s birth. It was reassuring that so many people were there to help if required. Paediatric nurses, cardiologists, anaesthetists, medical students…

Ten minutes after her birth she experienced her very first ECG!

Rebekah with Grace and Jessica

Aftercare was quickly arranged by the hospital for out-patients appointments to monitor Grace as she grew.

So far, so good.

Two years and eleven months later, the whole process was repeated for Grace’s younger sister, Jessica.

When Jessica was five months old, both Jess, Grace and myself had bloods taken for genetic testing, which we were told could take quite some time. Yet the idea of finally knowing one way or another would mean that we could accept whatever the outcome, deal with it, and finally live our lives to the fullest.

As my mum always tells me, “fore-warned is fore-armed.”

It really did take a long time for the test results.

But now we know.

I took the call from the geneticist’s office completely out of the blue, on a Thursday afternoon. I remember it vividly.

I was asked if I wanted to wait to get the results until my next appointment at the hospital, however, I knew we had waited long enough.

It was funny, as when I was asked what my thoughts on what the test results would be, I instantly said, ‘one has it, one hasn’t.’ The lady was shocked to say the least. I knew then that it was Jessica that had it and I told her as much. She was utterly dumbfounded. I don’t know how I knew, I just did… Mother’s intuition?

I put the phone down and sat for what felt like an eternity, but all too soon it hit me. I sobbed… A lot.

I felt relief for Grace, knowing she was free of it all, but mostly I felt guilt. Knowing it was because of me that Jess now had a difficult journey ahead of her. Not knowing where we go from here.

It turns out not only were the genetic tests positive, she has now had three or four ‘dodgy’ ECGs, showing long QT.

After spending the night in hospital on a telemetry set for monitoring her heart whilst on medication, she is now taking 13mg of propranolol twice a day; easier said than done with a three year old…

So here we are today.

She at least she has some protection now, although whether she will require a pacemaker later on down the line is still under discussion.

She also has something that I never did. Someone who truly understands… Right by her side, every step of the way. No matter how uncertain she will be feeling at times, I will always be there for her. I can hand on heart say that I know how she is feeling. Been there. Done that. Got the t-shirt!

Her story is ongoing, as is her life. But one thing we are certain of is we are not going to wrap her up in cotton wool. Life is to be lived, and I want to her to experience it to the fullest.

Russell Goodman

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

A healthy way to start the weekend, get up Saturday morning and go for a run. This was something my fiancée Charlotte and I enjoy regularly, sick this one however was very different.

After being out for just over an hour running the streets of Bath on a very sunny September Saturday, Charlotte and I returned to our flat when I suffered suddenly from a cardiac arrest. My heart rate shot up drastically causing me to pass out and completely lose any sign of a pulse.

My life-saving and truly courageous partner performed CPR on me until the ambulance arrived, whereupon I was shocked several times with the on-board defibrillator by paramedics. If it wasn’t for her immediate actions and quick thinking, followed by the quick ambulance response, things would have been very different for me.

I was immediately sent to the intensive care unit of Royal United Hospital in Bath for 3 days being closely monitored. My body temperature was refrigerated to preserve my brain function. After this I was then transferred to the cardiac ward and had no idea how or why I was there.

My fiancée, her family and my own family experienced such extreme uncertainty particularly in those early days, I really can’t imagine the anxiety, worry and stress that was felt.

I was totally unaware and have no memory of anything until at least a week later in hospital – convincing myself I’d been involved in a car accident and concerned at why my chest ached. I was told what happened to me, but it was still very hard to digest in my mind as I had no memory of anything that happened aside from a few minutes before the end of my run. At the time my short-term memory was very poor as I was unable to remember basic things.

Doctors explained to me their thoughts and offered possible answers on what had happened. Initially it was thought I’d caught a virus and was overly exhausted. After 7 weeks being in hospital, examined and scanned several times, I was told I’d have to have an implantable cardioverter defibrillator (ICD) implanted and take daily beta-blockers. At the time I was an electrician, one of the very few jobs not recommended by cardiologists, forcing me to give up and make a new start in my career.

In 2009 I experienced 2 inappropriate shocks from my defibrillator in February, setting me back physically and mentally. Consequently, I was required to have my ICD lead repositioned involving invasive surgery on my 27th birthday.

Today I am still under doctor’s investigation at the Heart Hospital in London, as I have no firm diagnosis for a cardiac illness. Initially, it was suspected that I had arrhythmogenic right ventricular cardiomyopathy (hospital discharge-diagnosis). However, following ECHOs, ECGs, blood tests and my defibrillator downloads, hypertrophic cardiomyopathy and dilated cardiomyopathy were investigated – but (common-gene) genetic testing has proved cardiomyopathy is not an accurate diagnosis. My immediate family have all been screened and none are showing irregular or concerning signs like me, including my identical twin brother.

In October 2009 I completed the Cardiff Half Marathon, which was a real achievement for me both physically and mentally. Since then I have gone on to complete several 10-mile races and fully intend completing a marathon in the near future. I enjoy keeping fit and will continue to do so, despite my medical history.

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.

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.