Brugada syndrome – find out more here

Brugada syndrome
Brugada syndrome

Brugada syndrome is an uncommon, but serious, heart condition. It can result in abnormally rapid heart rhythms called arrhythmias, which can cause palpitations or fainting and can be fatal.

However, some people with the condition have no symptoms at all.

Even though the heart pumps and looks normal, it’s possible for sudden electrical activity to lead to a dangerous heart rhythm.

This problem can be genetic, or may be passed on in families – see What’s the cause? below.

Not everyone with Brugada syndrome experiences arrhythmia, but when it does happen, it can be fatal.


What are the signs and symptoms of Brugada syndrome?

Often, there are no warning signs of Brugada syndrome until an abnormal heart rhythm causes the heart to stop beating (cardiac arrest).

Some people may experience symptoms such as:



(sometimes) heart palpitations

A family history of Brugada syndrome or unexplained sudden deaths may also be a warning sign.

Around a fifth of people with Brugada syndrome also experience atrial fibrillation, a heart condition that causes an irregular and abnormally fast heart rate.

Having a high temperature (fever) is thought to increase the risk of symptoms appearing or can aggravate existing symptoms.

How can it be fatal?

Sometimes the abnormal heart rhythm persists, leading to ventricular fibrillation, a rapid, uncoordinated series of heart contractions.

Most of the time, this doesn’t revert to normal heart rhythm without being corrected electrically, and usually causes the heart to stop pumping.

Brugada syndrome is a leading cause of sudden cardiac death in young, otherwise healthy people and may not be diagnosed because there’s no visible abnormality.

It may explain some cases of sudden infant death syndrome, which is a major cause of death in babies younger than one.

Sadly, most deaths from Brugada syndrome happen without any warning sign of the disorder.

Who’s affected

Brugada syndrome typically affects young and middle-aged males who are otherwise healthy, although women can also be affected.

It’s also more common in young men of Japanese and south east Asian descent. Read more about South Asian health.

Men are more likely than women to show signs of it, possibly because of the sex hormone testosterone, which is thought to play a role.

What is the underlying cause of Brugada syndrome?

The heart of someone with Brugada syndrome is structurally normal, but there are problems with electrical activity.

To properly understand the underlying cause, it’s important to know how the heart cells work.

On the surface of each heart muscle cell are tiny pores, or ion channels. These open and close to let electrically charged sodium, calcium and potassium atoms (ions) flow into and out of the cells.

This passage of ions generates the heart’s electrical activity. An electrical signal spreads from the top of the heart to the bottom, causing the heart to contract and pump blood.

More information on how the heart works can be found at the bottom of this page.

Genetic mutation

There are many different genetic mutations that have been linked to Brugada syndrome. The SCN5A gene is most often involved, but only in around a third of cases.

This particular gene provides instructions for making a sodium channel that transports positively charged sodium ions into heart muscle cells.

The mutation in this gene affects the proteins that make up the sodium channels, so they don’t work as well. There’s a reduced flow of sodium ions into the heart cells, which alters the way the heart beats.

Only one copy of the altered gene in each cell is needed to cause the disorder. In most cases, an affected person has just one parent with the condition.

Not all people with Brugada syndrome have these common gene mutations and there isn’t always a family history of it.

Other genes may be involved, and there can be many factors contributing to the development of symptoms, including medicines and imbalances of salts in the body.

How is it diagnosed?

If your GP thinks you have Brugada syndrome after assessing your symptoms, they may ask you to have an electrocardiogram (ECG) and refer you to a heart specialist (cardiologist). This should usually be a cardiologist who specialises in heart rhythm and genetic heart problems.


An ECG is a test that records the rhythm and electrical activity of your heart. Every time your heart beats, it produces tiny electrical signals, which an ECG machine traces on to paper.

Small stickers called electrodes are stuck on to your arms, legs and chest and connected by wires to the ECG machine.

If Brugada syndrome is suspected, you’ll probably have a simple and safe test known as an ajmaline or flecainide challenge to confirm your diagnosis.

Ajmaline and flecainide are antiarrhythmic medicines that correct abnormal heart rhythms, which block sodium channels.

The medicine is given through a vein in your arm, and an ECG records how your heart responds to it.

If given to someone with Brugada syndrome, it can reveal the abnormal ECG pattern characteristic of the syndrome.

Other antiarrhythmic medicines, such as propafenone or procainamide, can also reveal an irregular ECG result and lead to a diagnosis of Brugada syndrome.

If the test is negative, your doctor will consider your individual risk of having the syndrome and advise if further tests are needed, but you’ll probably be able to go home the same day.

You may need to have an echocardiography or MRI scan to rule out other heart problems and causes of arrhythmia, and blood tests to measure blood potassium and calcium levels.

Genetic testing

Genetic testing may also be carried out to identify the defective SCN5A gene that may be causing Brugada syndrome.

You and your family may be offered genetic testing if Brugada syndrome is diagnosed in a relative.

Learn more about genetic testing.

How is it treated?

The only proven effective treatment for Brugada syndrome is having an implantable cardiac defibrillator (ICD) fitted.

An ICD is similar to a pacemaker. If the ICD senses your heart is beating at a potentially dangerous abnormal rate, it can deliver treatment, such as an electrical shock, to help return your heart to a normal rhythm and pumping correctly.

An ICD won’t prevent arrhythmia, but it can treat it if it happens and help prevent sudden cardiac death.

Find out how an ICD is fitted.

There are currently no medicines recommended to treat Brugada syndrome.

A few simple measures can help prevent heart rhythm disturbances. For example, you can avoid getting a high temperature (fever) by taking paracetamol, and should treat illnesses like diarrhoea, which can affect the balance of salts in the body.

Is your blood pressure too high? Find out here

Is your blood pressure too high?
Is your blood pressure too high?

It’s thought around 30% of people in England have high blood pressure, and many don’t even know it. Though more than half of them are over 60, a large number are younger. Could you be one of them?

High blood pressure is common and often has no symptoms.

Check your blood pressure

High blood pressure is often referred to as a “silent killer” – the only way to know if you have it is to have your blood pressure checked. Health professionals such as nurses, pharmacists and GPs can check your blood pressure with a simple test.

If this check shows raised blood pressure, you may be given a blood pressure kit to take home so you can monitor your blood pressure throughout the day. This will confirm whether you have consistently high blood pressure.

High blood pressure increases your risk of having a heart attack or stroke, but there are things you can do to lower your blood pressure.

Keeping blood pressure healthy

“There are lots of different ways you can have a significant impact on your blood pressure,” says Dr Mike Mead, a GP in Leicester.

“Reducing your blood pressure can make a massive difference to your health. It can prevent you from having a stroke or heart attack. There are so many benefits to making sure your blood pressure stays at a reasonable level.”

The following steps towards a healthier lifestyle will help lower your blood pressure and keep it at a healthy level.


Do at least 30 minutes of exercise five times a week, such as walking, dancing, cycling, or swimming.

If you’re not used to exercising, don’t start too quickly. Talk to your doctor about how much exercise will suit you, and build up slowly.

Find out more about how to start:





You can find out more about health and fitness, including 10-minute home workouts.

Healthy eating

A healthy balanced diet will help reduce your blood pressure. A healthy diet includes eating:

less salt

less saturated fat

five portions of fruit and vegetables a day

Aim to eat no more than 6g of salt a day. Don’t add salt to food. Read food labels when you’re shopping to help you buy healthier foods. Many foods – including breakfast cereals, bread and soup – contain added salt.

Saturated fat is found in butter, ghee, lard, meat pies, fatty meat, sausages, cakes, biscuits, and food containing coconut oil or palm oil.

“Many people know to avoid butter because it’s high in saturated fat, but if you have three biscuits with your morning coffee, you’re still getting saturated fat,” says Dr Mead.

Fruit and vegetables are good for health, whether they’re fresh, tinned, frozen, dried, or in juice.

Lose weight

Exercising and eating healthily will help you lose weight. Obesity increases your risk of high blood pressure, so it’s important to be a healthy weight.

To find out if you’re a healthy weight and get advice on losing weight, use the BMI healthy weight calculator.

Get more tips on losing weight, and have a look at the 12-week weight loss guide.

Limit your alcohol intake

To reduce the risk of harming your health if you drink most weeks:

men and women are advised not to regularly drink more than 14 units a week

spread your drinking over three days or more if you drink as much as 14 units a week

One unit of alcohol is roughly half a pint of regular-strength lager or a 125ml glass of wine.

Regularly drinking more than the 14 units a week limit puts you at risk of a number of health problems, including high blood pressure.

Find out more about the risks of alcohol and how you can cut down.

You can use the Drinkaware unit calculator to find out how many units there are in different measures and brands of alcoholic drinks.

Find out about the calories in alcohol.


Although smoking doesn’t cause high blood pressure, it raises the risk of heart disease. Stopping smoking reduces this risk, and is especially important if you have high blood pressure.

Get information and tips to help you stop smoking.

Marfan syndrome – what are the signs and symptoms of Marfan syndrome?

Marfan syndrome
Marfan syndrome

Symptoms of Marfan syndrome

Marfan syndrome can affect many parts of the body, including the skeleton, eyes, and heart and blood vessels (cardiovascular system).

The severity of the symptoms varies widely. Some people experience a few mild symptoms, whereas others – about 1 in 10 – experience more severe symptoms.

The symptoms of Marfan syndrome tend to get more severe as a person gets older.


Someone with Marfan syndrome may have several distinct physical characteristics. They may be:

tall and slim, with long, thin arms and legs

have loose and very flexible joints

If your child is particularly slim or tall for their age, it doesn’t necessarily mean they have Marfan syndrome. It’s a rare syndrome, and your child will usually have a number of other symptoms if they have it.

Other physical characteristics of Marfan syndrome can include:

a small lower jaw

a high, arched palate (roof of the mouth)

deep-set eyes

flat feet

a breastbone (sternum) that either protrudes outwards or indents inwards

crowded teeth


Marfan syndrome can cause the spine to become abnormally curved to the sides. This is known as scoliosis.

Curvature of the spine can cause long-term backache. In severe cases, it can also make breathing difficult as the spine may press against the heart and lungs.


Spondylolisthesis is where one of the bones in your spine (a vertebra) slips forward over another vertebra.

This usually occurs in the lower spine, and can cause back pain and stiffness. Anyone can develop spondylolisthesis, but it more commonly affects people with Marfan syndrome.

Dural ectasia

The dura is the membrane that lines your brain and spinal cord. Dural ectasia is a condition where the dura becomes weakened and expands outwards.

People with Marfan syndrome are at particular risk of developing dural ectasia. As the membrane expands, it can press on the vertebrae in your lower back, which can cause:



numbness or pain in your legs


Many people with Marfan syndrome have some type of vision problem.

Lens dislocation affects half of all people with the syndrome. This is where the eye’s lens, the transparent structure that sits behind the pupil and focuses light, falls into an abnormal position.

Other possible eye-related symptoms of Marfan syndrome include:

myopia – short-sightedness

glaucoma – increased pressure in the eyeball which, left untreated, can cause permanent vision loss

aortic anyurism – where cloudy patches develop in the eye’s lens, causing blurred or misty vision

retinal detachment – where the light-sensitive layer of cells at the back of your eye (retina) begins to pull away from the blood vessels that supply it with oxygen and nutrients

Cardiovascular system

Marfan syndrome can affect the cardiovascular system, which is made up of your heart and blood vessels. It’s particularly serious if your aorta and heart valves are affected.


The aorta is the main artery in the body. It runs from your heart, down the centre of your chest, and through your abdomen.

In people with Marfan syndrome, the walls of the aorta are weak. This can sometimes cause the aorta to enlarge and balloon, which is known as an aortic aneurysm.

In severe cases, the aorta can split (rupture), causing potentially fatal internal bleeding.


Your heart has four chambers that pump blood to and from the rest of the body. To control the flow of blood through your heart’s chambers, your heart has four valves:

mitral valve

aortic valve

tricuspid valve

pulmonary valve

These valves act as one-way gates, allowing blood to flow through in one direction. In some people with Marfan syndrome, the mitral or tricuspid valves don’t close properly and blood leaks back through the valve.

Read more about common mitral valve problems.

The aortic valve may also leak, leading to the main pumping chamber (left ventricle) gradually becoming enlarged.


If your GP thinks you may have Marfan syndrome, you’ll be referred to a specialist for testing. Your heart and blood vessels will be examined for the symptoms of the syndrome.

Read more about diagnosing Marfan syndrome.

Stretch marks

Stretch marks are pink, red, or white streaks in the skin. They can appear when you gain or lose weight quickly, when you have a growth spurt during childhood, or during pregnancy.

People with Marfan syndrome often develop stretch marks because the tissue in their skin is weakened and the skin isn’t as elastic as it should be.

If you have Marfan syndrome, stretch marks are most likely to appear on your:



lower back

Over time, they’ll gradually fade to a silvery colour and will be difficult to see.

Jervell and Lange-Nielsen syndrome – What are the signs and symptoms of Long QT syndrome ?

Long QT syndrome
Long QT syndrome

Long QT syndrome causes problems with the electrical activity of the heart. It’s uncommon, occurring in around 1 in every 2,000 people.

Long QT syndrome is often the result of a faulty gene that’s inherited from one of your parents. The abnormal gene causes an imbalance in the chemicals that create the electric impulses in your heart.

The syndrome can also be caused by medicines for other conditions.

Symptoms of long QT syndrome

There are usually no physical signs of long QT syndrome, and some people don’t experience any symptoms.

The most common symptoms are blackouts or seizures caused by the interruptions to the heart’s rhythm.

Some people with long QT syndrome find that their heart sometimes suddenly beats in an abnormally fast, uncontrollable way. This type of arrhythmia is called “torsade de pointes”.

When this happens, the heart can’t pump blood properly and the brain is temporarily starved of oxygen, causing the person to temporarily pass out. The heart’s rhythm usually returns to normal within a minute or so and the person regains consciousness.

These episodes can start at any age and may be triggered by:


a sudden noise – such as an alarm bell

strenuous exercise – particularly swimming

a slow heart rate during sleep

However, there isn’t always a trigger.

Sometimes, the abnormal heart rhythm persists, leading to ventricular fibrillation (a rapid, uncoordinated series of contractions). This rarely reverts to normal without medication and, if it isn’t electrically corrected, usually causes the heart to stop pumping (cardiac arrest) and death.

Dial 999 to request an ambulance if someone with long QT syndrome suddenly collapses. Perform cardiopulmonary resuscitation (CPR) until medical help arrives.

Long QT syndrome is a leading cause of sudden cardiac death in young, otherwise healthy people, and is often thought to be an underlying cause of sudden infant death syndrome (SIDS).

What causes long QT syndrome?

To understand the underlying cause of long QT syndrome, it’s important to know how the heart cells work.

On the surface of each heart muscle cell are tiny pores, or ion channels. These open and close to let electrically charged sodium, calcium and potassium atoms (ions) flow into and out of the cells.

This passage of ions generates the heart’s electrical activity. The electrical signal spreads from the top of the heart to the bottom, causing the heart to contract and pump blood.

In most cases of long QT syndrome, the flow of potassium ions out of the heart muscle’s cells is delayed. This means that after each heartbeat, your heart can take longer to reset itself.

Inherited long QT syndrome

Long QT syndrome is often inherited from a parent as a faulty gene. The abnormal gene affects the proteins that make up the ion channels in the heart cells. The ion channels may not work well, or there may not be enough of them, which disrupts the heart’s electrical activity.

Cardiac Risk in the Young has published a list of medications that people with long QT syndrome should avoid.

Drug-induced long QT syndrome usually happens in people with an inherited higher risk of developing it, such as those with slight genetic heart defects.

For more information, you can read the Sudden Arrhythmic Death Sydrome’s (SADS UK) guide about acquired, drug-induced long QT syndrome (PDF, 158kb).

What does ‘long QT’ mean?

Every time your heart beats, it produces tiny electrical signals. An electrocardiogram (ECG) machine traces these signals on paper – a typical pattern is shown below.

As the graph shows, each heartbeat is mapped as five distinct electrical waves – P, Q, R, S and T. The part of the pattern from Q to T represents the electrical activity of the heart’s lower chambers, or ventricles.

In people with long QT syndrome, this QT interval lasts abnormally long. In other words, it takes longer for the heart cells in the ventricles to recharge after each heartbeat. This can upset the timing of the heartbeat and may trigger an abnormally fast heart rhythm.

Diagnosing long QT syndrome

If your GP thinks you have long QT syndrome after assessing your symptoms, they may recommend that you have an ECG and refer you to a heart specialist (cardiologist).

In particular, if blackouts have occurred during exercise, or if there’s a family history of sudden cardiac death below the age of 40, specialist assessment is needed.

An ECG is a test that records your heart’s rhythm and electrical activity. If you have long QT syndrome, the trace of the QT section will be longer than normal.

During an ECG, sticky pads called electrodes are stuck on your arms, legs and chest, and connected by wires to an ECG machine. The test may need to be carried out while you exercise on a treadmill, as well as during rest.

Genetic testing may be needed to identify the defective gene that may be causing long QT syndrome. It can also help to determine which family members may have inherited the defective gene and need clinical assessment.

Treating long QT syndrome

Most people with inherited long QT syndrome will need treatment with medicines. Beta-blockers, such as propranolol or nadolol, may be prescribed to help control irregular heartbeats and slow down your heart rate.

If your symptoms are frequent or severe, and you have a high risk of having a life-threatening arrhythmia, you may need to have a pacemaker or implantable cardioverter defibrillator (ICD) fitted.

Like pacemakers, ICDs are small battery-powered devices. If the ICD senses that the heart is beating at a potentially dangerous abnormal rate, it will deliver an electric shock that returns the heart rhythm to normal.

In some cases of long QT syndrome, surgery may be needed to control the flow of chemicals into the heart.

If you have long QT syndrome caused by taking medication, your medication will be reviewed. It may be possible to prescribe alternative medication that doesn’t adversely affect your QT interval.

Living with long QT syndrome

With appropriate treatment, such as medication or surgery, it should be possible to lead a relatively normal lifestyle. However, you may need to make some lifestyle adjustments to reduce your risk of having blackouts.

For example, your doctor may advise you not to exercise strenuously or play contact sports, and to try to avoid startling noises, such as alarm clocks or telephones with loud ringtones. Avoiding stressful situations may also be recommended.

Your doctor may prescribe potassium supplements or suggest that you increase the amount of potassium-rich foods in your diet. Good sources of potassium include:

fruit – such as bananas



nuts and seeds








Always tell medical staff that you have long QT syndrome. Any new medication, both prescription or over-the-counter, will need to be carefully checked to see if it’s suitable for you.

Do you believe these defibrillator myths?

AED  Defib Myths
AED Defib Myths

Many people have outdated ideas about what defibrillators are, what they do, and how they are used. When the word is mentioned, they may picture a hospital, a trained doctor or a nurse giving a patient a shock from a large, intimidating machine with two metal pedals that administer a massive shock that dramatically brings the patient back to life.

Thanks to TV shows and glitzy Hollywood films, defibrillators have been seen as a mysterious life-saving machine that can also be dangerous and complicated, however, the truth is very different.

There is a type of defibrillator called an Automated External Defibrillator (AED). An AED is a small device that analyses a person’s heart rhythm in order to detect the irregularity that occurs during a Sudden Cardiac Arrest (SCA). They then administer a shock to the victim to get their heart back into a normal rhythm.

AED’s are incredible machines that are completely user-friendly and can save the life of a person suffering from a SCA, but there tends to be confusion and mystery surrounding them. We’ve taken a look at the biggest myths about defibrillators, and why believing them could lead to fatality.

  1. I can’t use a defibrillator, I’ve not been medically trained and it’s too complicated

This is one of the most common myths surrounding AED’s. For many people, the only exposure they will have had to a defibrillator in use will have been on TV, with a medical professional handling the equipment. Contrary to this image, AED’s are in fact very simple to use.

Anyone can use an AED, even if they’ve not had formal training. They are safe to use by people of all ages, and many have voice-guided systems or step-by-step directions coupled with pictures to aid the user. They have been designed to be completely user-friendly – you should never worry about breaking one or be apprehensive about following the instructions.

  1. I could seriously hurt someone if I use a defibrillator on them

A major myth is that using an AED on someone incorrectly may harm them. This is understandable – the thought of giving someone’s heart an electric shock sounds like a frightening and invasive procedure.


What you need to remember is that that all AED’s have a built in failsafe to ensure that they won’t shock someone who is not suffering from a SCA. When an AED needs to be used, the patient will technically be already dead, so there is no possible way to cause them any further damage.  Never worry about causing someone further harm when performing CPR or using a defibrillator on them, because, put bluntly, the alternative is death.

As well as this, a AED will never deliver a shock to a person whose heart is not in irregular rhythm, as we will discuss in more detail below.

  1. A defib could be harmful to me if I don’t use if properly

If you’ve not had any experience using an AED before, they can seem quite intimidating. It’s natural to be worries about your own safety, especially

AED  Defib Myths
AED Defib Myths
in high-pressured and dangerous situations. We can tell you that an AED cannot shock a person who’s heart is in normal rhythm no matter which side of the pads you are on.

When you apply the pads to a patient and the AED analyses their heart rhythm, you will be told not to touch the patient before the shock is administered. If you are touching the patient, the most you will feel is a slight twinge.

  1. A defib is a life-saving device that can be used on anyone who has been injured

This is untrue. Unfortunately, defibrillators can only aid people who have suffered from a Sudden Cardiac Arrest.

Although it is important to remember that there are approximately 30,000 out of hospital cardiac arrests per year in the UK and an AED will never shock a person who is not suffering from a SCA. This means it’s well worth understanding and making yourself familiar with AEDs to ensure that you are prepared and informed should you be in the vicinity of one occurring.

  1. I don’t need to use a defib on this person as I’ve called an ambulance and it will arrive soon

In an emergency situation where you suspect that a person has had a SCA, you must first call the emergency services. After this, unless instructed otherwise you should look for an AED in order to use it.

If a defibrillator is used and effective CPR is performed within 3-5 minutes of cardiac arrest, survival chances increase from 6% to 74%. Considering that the emergency services average response time to an urban cardiac incident has recently increased from 8 to 11 minutes, every single second counts.

Always be prepared to take action

The reality of a SCA is that without immediate treatment, 90-95% of Sudden Cardiac Arrest victims will die. This is why it’s so important for everyone to understand how effective AEDs are, and how simple they are to use.

Rosa Mitchell is a guest writer for defibshop, the UK’s independent defibrillator supplier. For more information about defibrillator myths, take a look at their infographic.