Brugada Syndrome: The Sudden Threat

 Confounding doctors for ages, Brugada Syndrome is a scary condition because it usually hits unexpectedly, and fatally. Just imagine this: young people simply doubling over and dying from cardiac arrest, even though they never suffered from heart problems before, even though there is no history of heart disease in their family that they are aware of.  To friends and family, it seems that they simply keeled over and died, out of the blue. This is oftentimes a prime example of Brugada Syndrome.

 

What it is and who it hits

 

Brugada Syndrome is actually a genetic disease. It is inherited as a dominate gene, however, many generations of family can inherit the chromosome for the disease without actually having it. This is why it is tricky to spot. Very often, the disease goes by unseen until it is too late. Brugada causes problems with the muscles in the heart, the muscles responsible for contracting the heart. This results in irregular heart palpitations, which means the blood is not pumped out of the heart and into the rest of the body properly. This is why Brugada usually manifests in fainting and then cardiac arrest.

 

How to Spot It

 

As previously stated, Brugada Syndrome is very difficult to spot. Some symptoms include difficulty breathing, infrequent and causeless fevers, thrashing at night, nightmares, fainting spells, heart pains, and heaviness in the chest. If you have a history of heart disease in your family at all, it isn’t a bad idea to get a genetic test for Brugada Syndrome, to see if you are at risk for it.

 

What You Can Do About It

 

Treatment options are still somewhat limited, as Brugada Syndrome was not officially classified as a disease until the early 1990s. The primary treatment is to surgically install an implantable cardiac defibrillator (ICD) (which is something very much like a pacemaker, but is permanent, whereas a pacemaker is temporary). There is a new strain of drugs, called transient outward current blockers (for example, quinidine), which can be used hand-in-hand with ICD to prevent the arrhythmias (the irregular heart contractions). If you have experienced any of the symptoms mentioned above, it is important to see your doctor. He or she can help you determine if the symptoms you are experiencing are related to Brugada Syndrome. In many cases, they aren’t—but it could mean you have other heart problems. Brugada Syndrome can be spotted on an electrocardiogram (ECG). If the diagnosis is not clear, additional tests using sodium channel blockers can be carried out. Paired with a genetic test for history of the disease, the diagnosis can be made certain.

 

Getting Along with Brugada Syndrome

 

So long as Brugada Syndrome is diagnosed, it can probably be prevented. It is when it goes undiagnosed for a long period of time—until an arrhythmia causes brain damage or health. But once an ICD is installed and the heart is closely and regularly monitored, patients suffering from Brugada can live quite normal lives. They can participate in almost all kinds of physical activity and sports, just like anyone else. Sports that would jostle around the ribcage, and hence the ICD, should be avoided. Machinery and places involving magnets and electromagnetic fields should also be avoided. Certain drugs, like those altering the heart rythms, should also be avoided.

 

 

 

The Unexpected Brugada Syndrome

            You’ve probably heard the horror stories of people suddenly dropping down dead, leaving families devastated and doctors baffled as to what happened. Young men or women, in their prime, who suddenly had a heart attack. What was going on? It took researchers years to find out the cause of these sudden deaths: Brugada Syndrome.

 

            What is it exactly?

            Brugada Syndrome is a very rare (it affects approximately 5 in 10,000 people, or 0.05% of the population) genetic disease that affects the heart. It causes something called arrhythmia, which is a series of irregular heart palpitations. The heart muscles work in rhythmic motions in order to pump blood out of the heart and through the veins into other parts of the body. The heart pumps oxygen to the brain and allows the body to run smoothly. With an arrhythmia, this process is endangered. A severe case of arrythmia can result in brain damage or a heart attack, and, shortly thereafter, death. Brugada Syndrome was discovered by Dr. Pedro and Josep Brugada (a pair of brothers) in 1992. The syndrome was named after them by scientists in 1996.

 

            How do I know if I have the disease?

            If you display any symptoms related with heart disease, such as infrequent fevers, nightmares, nighttime thrashing, heaviness in the chest, heart ache or pain, strange heart sensations such as fluttering, or difficulty breathing, you should consult your doctor. An electrocardiogram (ECG) can provide a more or less definitive diagnosis. Brugada Syndrome will show up on an ECG as a J-shaped pupitation, called a Brugada symbol. A genetic test can also provide some hints as to the likeliness of you possessing the syndrome. For example, a parent with the Brugada syndrome usually has a 50% chance of transmitting the disease to their child.

 

            What do to about it

            As of yet, there is no cure for the Brugada Syndrome. The primary treatment of it is through use of a device called an implantable cardioverter defibrillator (ICD). This device is more or less the same as a pacemaker. It connects a wire to a vein in the heart. The vein pumps blood to the muscle. Any time the device detects the heart muscles moving abnormally, it sends a small electric jolt so as to make the muscles contract normally.

            In the case of a cardiac arrest, without the ICD, death is imminent. A person can be saved, but appropriate medical care must be found immediately. Administering cardiopulmonary resuscitation (CPR), or even just chest compressions, can increase chances of survival until help arrives. However, an ICD should prevent such an occurrence. An ICD is a permanent addition to the body, unlike a pacemaker. A person can live a very normal life with an ICD, but movements or activities that can jostle or damage the ICD should be avoided. Ares with electromagnetic fields and machines using magnets are not to be used, as they disrupt the electricity flow in the ICD, and sports which are very exhaustive on the chest should not be partaken in.

 

 

Living with Brugada Syndrome

Living with Brugada Syndrome, can make life different for you and everyone around you. For many living with Brugada Syndrome it is not easy but it certainly does not have to take over your life and how you live it.

What is Brugada Syndrome?

An inherited complication, Brugada Syndrome is found in the heart. Specifically a disorder of the heart’s electrical system that is a by-product of an abnormal heart beat; this is otherwise known as Arrhythmia.

With normal heart function, each beat of your heart generates an electrical signal that are created by specific cells in the upper right chamber; also known as the right atrium. When someone has Brugada Syndrome a defect is found; this defect will lead to significant changes of abnormal electrical activity. This defect is dangerous kind of arrhythmia that is found in the lower ventricles that so fast, making the heart unable to pump enough blood it needs for the brain to work properly. These electrical activities will occur suddenly which causes fainting; even cardiac arrest or sudden death.

It is reported that the average age of patients with inherited arrhythmia is between 6 months and 75 years of age; the average age of patients with sudden cardiac arrest death from Brugada Syndrome is 35 to 40 years of age.

How is Brugada Syndrome Diagnosed?

When a patient is assumed to have Brugada Syndrome, he or she is immediately referred to a specialist in heart disease; also known as a cardiologist. The cardiologist will perform a detailed evaluation that includes taking the patient’s family health history; the reason for this is because Burgada Syndrome is very difficult to diagnose. Due to this difficulty, many tests may be required to rule out other conditions that can mimic Brugada Syndrome; this includes if the patient is on medication that can always mimic this syndrome.

What are the Symptoms and How can They be Treated or Managed?

In many cases, some patients will not experience symptoms while having an arrhythmia episode, where other patients will not experience any of the following symptoms. They are:

·         Excess Pounding or Fluttering within the patient’s chest

·         Shortness of Breath

·         Seizures

·         Fainting

·         Arrhythmias that take place while sleeping

These symptoms can lead to sudden cardiac death; it is very important that any symptom you may experience not be ignored and that the patient be seen by a doctor immediately.

The doctor will help you to treat and manage your Brugada Syndrome by frequently recommending:

·         An Electrophysiology (EP) Study

This will monitor the condition of the patient’s syndrome. This procedure takes 1 to 2 hours to complete. It allows the doctor to use the special types of catheters to allow the heart to be paced when needed with and without medications.

·         A Special Device Implanted in the Shoulder called an Implantable Cardiverter Defibrillator (ICD)

This will prevent an arrhythmia Attacks. This device is tiny, about the size of a credit card, can detect and prevent the kind of arrhythmias that are responsible for causing patients to faint and or die. Essentially, it gives a “shock” to bring the heart back to normal beating.

Having Burgada Syndrome, is life changing and can make living a bit difficult at times; however, this does not mean anyone who lives with this syndrome should have to stop living.

Heart Diseases: Brugada Syndrome

Brugada Syndrome is a disease that causes arrythmia. What is arrythmia? The heart beats through a regular cycle of contractions which pump blood out of the heart and to the rest of the body. When the heart beats abnormally, difficulty breathing, seizures, and death can occur. This is why a severe case of arrythmia can result in an unexpected, sudden, death, usually occurring when a person is sleeping or resting. The heart may beat too quickly (which is called tachycardia), too slowly (bradycardia), or some irregular mix of the too. People suffering from arrythmia do not necessarily feel it as the sensations differ—they may feel nothing, they may feel their heart pounding or fluttering, a weight being pressed down on the chest, or shortness of breath.

 

What are the indicators of Brugada Syndrome?

 

            The reason why Brugada Syndrome is so difficult to diagnose is because it has few recognizable symptoms. These may include shortness of breath, difficulty breathing, chest pains, fainting spells, seizures, heart palpitations and going into sudden cardiac arrest. Brugada Syndrome can be spotted on an electrocardiogram or ECG. The most indicative factor of Brugada Syndrome is an abnormal pattern on the ECG called the “Brugada symbol”.

 

            Who gets Brugada Syndrome?

           

            Brugada Syndrome is a genetic disease. It takes the dominant gene, so if your parent(s) or son or daughter has it, you may be at risk, too. It passes on directly from generation to generation. Brugada Syndrome typically manifests itself in adulthood. It is eight times more likely to occur in men than in women, and it is much more common in those with Asian, particularly Japanese or Southeast Asian, ancestry. A genetic test can determine if you are at risk.

 

            How is Brugada Syndrome treated?

 

            As Brugada Syndrome was only discovered within the last two decades, treatments are not very comprehensive or advanced yet. Perhaps in the future, more treatment options will be discovered, and more methods to finding if a patient has Brugada in the first place, but for now, a singular option exists. This option is a medical device called an implantable cardioverter-defibrillator. This device is very similar to a pacemaker, and is surgically inserted into a space just inside the ribcage. Wires connect it to a vein in the heart, which runs directly to the pumping muscles. When it detects irregular heart palpitations, it emits an electric shock, which corrects the motion of the muscle.

 

            Life with Brugada Syndrome

 

            People with Brugada Syndrome can lead relatively normal and productive lives. They can do most physical exercise and almost every sport. Sports or activities which have the potential for jostling the defibrillator should be avoided, however. If the device should disconnect or dislodge itself, it could result in a seizure or cardiac arrest. Patients with Brugada should also avoid operating machinery using magnets, or being in environments featuring electromagnetic fields. As the defibrillator is an electric device, these magnetic fields can disrupt or break the device. If caught early, Brugada Syndrome, at least the fatal aspect of it, can be avoided.

 

 

 

The Sneaky Killer: Brugada Syndrome

Brugada is a genetic disease which affects the heart. It is a “sneaky disease” which causes sudden cardiac death. In some rare cases, a nongenetic form of the disorder may be caused by certain drugs that induce an altered heart rhythm (for example, drugs used to treat high blood pressure, depression, etc.). It is a major cause of so-called unexplained deaths in relatively young people who have had no previous history of cardiac disease. The disease becomes apparent in adulthood, and the mean age of death caused by Brugada is approximately 40 years old. Brugada is estimated to affect 5 in 10,000 people, a 0.05% chance rate. It is most common in people of Asian ancestry. Although Brugada affects both men and women, it is about 8x more common in men. Researchers suspect that the higher levels of testosterone in men accounts for this.

 

                Brugada syndrome was named after the two Spanish cardiologists who discovered and named it as its own entity (whereas it was previously considered merely an anomaly, but not its own disease). Brugada syndrome causes ventricular fibrillation, which are uncoordinated contractions of the cardiac muscles in the heart—meaning they merely quiver or shake, rather than have full, proper, contractions. These abnormal movements can be observed on an electrocardiogram (ECG)—the vibrations will take a strange J-shape pattern on the chart. Ventricular fibrillation can, at its worst point, result in a fainting spell and sudden death. 

 

Symptoms of Brugada Syndrome

 

                Brugada Syndrome is somewhat hard to spot beforehand. Some symptoms include fever, nightmares, night-time thrashing about, seizures, difficulty breathing and ventricular fibrillation. Typically, these symptoms surface when a person is sleeping or at rest. However, unfortunately, these symptoms are also characteristic of other cardiac causes. This is why Brugada is difficult to diagnose.

 

Causes of Brugada

                              

                Brugada Syndrome is a genetic disease that, unfortunately as of this point has no specific treatment targeted to it. Roughly 20% of reported patients with Brugada syndrome have had some mutation in the gene that encodes the sodium ion channel for the cell membranes in the muscle cells of the heart (hence Brugada causes muscular dysfunction in the heart).

 

Treatment

                While no surefire treatments exist, yet, there do exist some ways to try to avoid it completely. If Brugada is suspected in a patient, a doctor may surgically install an implantable cardioverter-defibrillator (ICD), a device similar to a pacemaker, the main difference being that the ICD is usually a permanent implementation, whereas a pacemaker is a temporary solution. The device is connected to the veins of the heart with wire and is programmed to correct incomplete heart contractions by delivering a jolt of electricity. People with ICDs can live more-or-less normal lives. Psychological side-effects of the ICD may include increased levels of anxiety, as reported by approximately 1/3 of all patients. Physically-speaking, a patient with ICD can engage in almost any physical activity or sport, provided whatever it is doesn’t jostle the ICD too much. Patients with an ICD should avoid operating or being near equipment that utilizes large magnets or generates magnetic fields.

 

                It is important to be honest with your doctor about the history of cardiac diseases in your family. Brugada Syndome is a dominant-gene disease, so if you have one parent who has had it, it may be possible that you are affected with it, as well. Catching the signs early can help prevent the disease all together.

Diagnosis and Treatment of Brugada Syndrome

Brugada syndrome is a disease that is inherited genetically. It shows no preference over male or female, although it does have a reputation for being the root of most episodes of sudden death in young men living in Laos and Thailand. This disease is named after the Spanish cardiologist Pedro Brugada and the Belgian cardiologist Josep Brugada. Patients with this syndrome show unusual electrocardiogram (ECG) results. It is most known for its possibility of sudden unexplained death syndrome, or SUDS for short, due to its tendency to cause sudden cardiac death/arrest. Luckily, it is treatable.

 

Diagnosis

 

                Being a genetic disease, genetic testing is the most effective way to confirm the presence of Brugada syndrome. If this disease runs in the family, it may be wise to get tested even if no symptoms have appeared in order to determine whether or not the individual is at risk of developing Brugada.

                Some of the symptoms that may lead to a diagnosis of Brugada syndrome include an irregular heartbeat, heart palpitations, inexplicable fainting, and of course sudden cardiac arrest. These symptoms are extremely common in many other types of cardiac diseases so regardless of whether or not Brugada runs in the family, it is wise to visit a doctor upon experiencing any of these.

                The term Brugada syndrome actually describes a specific heartbeat pattern that is only detectable by means of ECG. It can either be a constant pattern or something that only happens during certain events. In the latter case, a doctor can perform a diagnosis by administering a drug that will provoke the heartbeat to enter this pattern in order to take proactive measures before it gets worse.

 

Resulting complications

 

                There are many complications that can come as a result of living with untreated Brugada syndrome. The disease itself is actually relatively harmless, but what it can develop into is what causes problems for patients. Among these is polymorphic ventricular tachycardia, which is a greatly increased heart beat and is a cause of sudden cardiac death among Brugada patients, among other problems. Another is ventricular fibrillation, which is a disorder where the ventricles of the heart contract at different and perhaps irregular rates, causing an extremely uneven blood flow. This can also cause sudden death or permanent brain damage, or in severe cases even complete brain death.

 

Treatment

 

                Normal drug treatments for similar heart conditions do not work with Brugada syndrome since they do not prevent sudden cardiac arrest. Currently, the only available treatment is an invasive surgical procedure. It is the implantation of a cardioverter-defibrillator. This detects arrhythmias and corrects them automatically, and can even help prevent other similar heart problems. Implanting this device has had a 100% success rate at completely curing Brugada syndrome, and though patients must live with it for the rest of their life, it is far better than risking the alternative. There is currently a drug under development that has shown to reduce risk of sudden death, but it is far from a definite cure.

 

                While definitely a terrifying disease, Brugada syndrome is relatively easy to combat. As long as individuals showing symptoms or with a family history of Brugada undergo pre-emptive testing, there is nothing to worry about.

Brugada Syndome: History and Basics

Brugada syndrome gets its name from Spanish/Belgian cardiologists Pedro Brugada and Josep Brugada. It is noted as being the leading cause of sudden unexplained death syndrome (SUDS) of young men in Thailand and Laos who have no previous diagnosis of cardiac disease. The most common characteristic of Brugada syndrome is the abnormal electrocardiogram (ECG) results and an increased risk of sudden cardiac death. The first discoveries of this syndrome were reported in 1989, but it was not until 1992 that the Brugada brothers were able to prove their findings as a distinct clinical entity, in patients that experienced sudden death caused by ventricular fibrillation in the heart.

 

Origin

Of the Brugada cases studied 20% have shown links to a mutation of the SCN5A gene which is located on the third arm of the short chromosome 3p21. Mutations of this gene lead to loss of actions in the epicardial areas of the right ventricle which results in transmural and epicardial dispersion of repolarization. Patients who exhibited sudden death because of this disease and were submitted to a detailed autopsy have shown structural right ventricular pathology as described by the definition of the syndrome. To date over 160 mutations of the SCN5A gene have been discovered each with distinct mechanisms and effects on functions, which explains the variation of degrees of penetration and expression of this disorder.

 

Testing

 

Testing for Brugada syndrome is now clinically available for patients suspected of having Brugada syndrome as well as identifying relatives who may also be at risk of this disease. In some cases the disease can be seen by characteristics on an electrocardiogram which may be present at all times or by the administration of the particular anti arrhythmic drugs (ajmaline or flecainide) which block sodium channels causing ECG abnormalities to spontaneously appear for yet unknown reasons. As it is a genetic disease, even those not showing symptoms should be tested if they share a blood relationship with someone who has been diagnosed.

 

Symptoms and effects

 

The underlying cause of death in Brugada syndrome is ventricular fibrillation caused by fast polymorphic ventricular tachycardia or ventricular fibrillation often appearing with episodes of syncope (fainting) and sudden death (aborted or not). This arrhythmia will appear without warning and there is no exact reliable treatment that totally prevents this fibrillation from occurring. The best known treatment lies in stopping the lethal arrhythmia before death occurs which is done using an implantable cardiovascular-defibrillator (ICD) to monitor the patient’s heart rhythms and defibrillate a patient as needed. New studies suggest that quinidine, a class la anti-arrhythmic drug may decrease episodes of ventricular fibrillation from occurring in patients diagnosed with this disease. Other drugs have been reported to increase type-1 ECG and/or arrhythmia within patients who have been diagnosed with sometimes fatal results. Patients can sometimes prevent fatal arrhythmia by avoiding these drugs or using them in controlled conditions. Patients with increased risk factors for coronary artery diseases may require an angiogram before being allowed to receive an ICD implant.  

 

While Brugada syndrome is a relatively new medical discovery, the research into the cause and treatment for patients diagnosed with this syndrome is ongoing.