Brugada Syndrome

What is a Brugada Syndrome?

The human heart is comprised of four chambers. The two upper chambers are known as Atria and the two chambers on the lower end are called ventricles. The human heart beats on certain electrical impulses. Patients suffering from the condition of Brugada syndrome have uncoordinated electrical impulses flowing between the ventricles which is also known as ventricular fibrillation. In Brugada syndrome, there is a decreased flow of blood between the two ventricular chambers. Further, a decreased flow of blood to the human brain can also cause fainting or even sudden death in worst cases.

Brugada syndrome is a life-threatening disorder characterized by sudden death associated with the incomplete right bundle-branch block, ST-segment elevation, and anterior precordial leads.

It is a rare but serious condition. The normal rhythm of the heart is affected making it beat either too fast or in an irregular way.

What is a Brugada Syndrome?

Brugada syndrome is the most common cause of sudden heart-related death in young and healthy people.

Symptoms of Brugada Syndrome

People who are suffering from Brugada syndrome start exhibiting symptoms right from the middle age group of 40 years. They often face symptoms like irregular heartbeat that is also known as ventricular arrhythmias. Some of the patients suffering from Brugada syndrome are completely asymptomatic or exhibits no signs and symptoms of the condition at all. However, people who have the signs of ventricular arrhythmias can face problems in breathing or may even experience syncope i.e., loss of consciousness due to lack of oxygen supply to the brain.(1) In more severe cases, sudden death is also a possibility.

However, the severity of the symptoms of Brugada syndrome may vary from person to person. In certain cases, the Brugada syndrome can also have effects like fever and sodium blocking.

In some situations, people suffering from Brugada syndrome can also have to face sudden unexpected nocturnal death syndrome (also known as SUNDS). A number of such SUNDS cases have been reported in Southeast Asia where young people have suddenly died out of a cardiac arrest even when they have been asleep. These individuals had no other identifiable cause for the death as found by the investigators. Brugada syndrome has also caused sudden infant death syndrome (also known as SIDS). In this condition, the child may die in the very first year of their life out of a cardiac arrest.(2)

In most people, Brugada syndrome remains undiagnosed as the condition most often doesn’t show any noticeable symptoms.

Abnormal ECG patterns are the most common sign of Brugada syndrome. The other sign and symptoms are:

  • Dizziness
  • Fainting
  • Irregular heartbeats
  • Gasping at night
  • Labored breathing
  • Fast and irregular heartbeat
  • Sudden cardiac arrest
  • Seizures

Fever can exacerbate the clinical manifestations and so can dehydration, electrolyte imbalance, and cocaine use.

The symptoms of Brugada syndrome are similar to other heart rhythm problems. It is important to consult a doctor to know whether it is Brugada syndrome or any other heart rhythm problem which is causing the symptoms.

Causes of Brugada Syndrome

Brugada Syndrome occurs due to genetic mutation of the SCN5A gene. The SCN5A is responsible for providing instructions for making sodium channels that send the positively charged sodium ions to the heart muscle cells. Mutation of SCN5A gene alters the structure and function of the heart cells thus altering the way the heart beats and changes the hearts’ normal rhythm. As of now the researches that have been done in this domain has reported of nearly 250 types of a gene mutation of 18 different genes that disturbs the encoding of potassium, sodium and the calcium channels or the proteins that are associated with these channels. Although, 18 different genes were identified, yet nearly 65 to 80% of the cases cannot be traced back to a proper genetic mutation cause.(4) Some researchers say that Brugada syndrome can also have a relation to the Romano-Ward Syndrome.

In most of the cases, the mutations have been found to be inherited. Here an autosomal dominant pattern is found prominent when the mutation is inherited by the children from their parents. This means that even if a single gene is inherited from either of the parent, the child can suffer from Brugada syndrome. This is why it has been seen that most of the patients have at least one parent who has also suffered from the situation. This is a threat that is as pertinent for the male child as it is for the female one. Parents who have this condition have a 50% chance of passing the condition to their child.(2)

Some people even though are not having this gene mutation are associated with this condition. Other possibilities include:

These possibilities can also trigger symptoms in those having inherited Brugada syndrome.

Diagnosis of Brugada Syndrome

Brugada syndrome is a problem that can be examined and diagnosed in a number of ways. Apart from the common physical examination that includes listening to the heart of the patient using a stethoscope and making a normal 12-lead ECG, there are certain other tests that can be used for making a diagnosis of the condition:

Electrocardiogram with Medication: In this form of test, a technician generally places a probe on the top part of your chest which is used for making a record of the electrical impulses while your heart beats. This is a nonintrusive test that does not hurt the patient anyhow. These electrical signals will sum up the ECG readings that can be used to find any irregularity on the beating pattern of the heart. However, the cardiac rhythm can change very quickly, which is why the ECG might not be able to read the abnormalities in your heart rhythm. In this condition, the doctor can inject certain medications into your body using an IV. This can help to ascertain the quality of the heart beats better.

Electrophysiology (EP) Test: Once the ECG tests suggest that you have Brugada syndrome, the doctors can further do an EP tests so that it can be seen that how fast and how often your heart can enter into the uncertain heartbeat pattern and rhythm. This test is done with the help of a catheter that is threaded through a vein in the area of your groin to the region of your heart. Several electrodes are passed along the region so that they can take a record of the irregular heartbeats of the patient. The electrodes just pick up the irregular beats of the heart in order to diagnose the condition.

Genetic Testing for Brugada Syndrome: Genetic testing is not exactly required by doctors to make a diagnosis of the presence of the Brugada syndrome in your body. It helps in identifying the mutations in the gene. Moreover, in many cases, such tests are recommended by the doctors so that they can determine whether other members of the family are also affected by this same condition.

Treatment of Brugada Syndrome

Brugada syndrome is a condition when a person experiences a problem of serious abnormal rhythms of the heartbeat which is a condition also referred to as arrhythmia. People who have a history of serious cardiac problems, a personal history of facing a sudden cardiac arrest and a personal history of having fainting spells often indicate towards Brugada syndrome.

Medicines are often not a choice of treatment for Brugada syndrome. Instead, it is the implantable cardioverter defibrillator that provides the main form of treatment. Implantable cardioverter defibrillator provides the apt form of treatment that has a high-risk index. It is a very small device that continuously makes readings of your heart rhythm and also provides electrical shocks as and when required to control and even prevent abnormal heartbeats. In order to install an ICD, an insulated wire, flexible in nature, is inserted into the region of the collar bone into a major vein. The direction of the wire is checked through X-ray images. The end parts of the wires are secured into the bottom parts of the heart. The other ends are secured with a shock generator. This is a process that requires overnight hospitalization. In rare cases, the process can also be life-threatening. Hence it is imperative that the benefits and the risks of the process are properly looked into. The ICD needs to be programmed by the doctor so that the threats of unnecessary shocks are reduced.

Other Modes Of Treatment Include:

Medication for Brugada Syndrome: While treating patients suffering from Brugada syndrome, certain medications is also important. Medicines like quinidine are used so that the heart can be prevented from the potential danger of arrhythmic heartbeat. Such types of medication are often administered as a support to the treatment process of ICD. However, if patients have a previous history of cardiac arrest or having a past record of fainting then administration of such medicines is forbidden.

Support Treatment: Patients who get treated for this syndrome must enroll into support groups of people who happen to suffer from similar conditions. This is one of the ways they will get all the strength to fight the situation. Once again they must get checked at regular intervals.

Radiofrequency Ablation: Radiofrequency is a new treatment which involves destroying the areas believed to be causing abnormal heart rhythms using electric current.
As it is an emerging treatment the risk of recurrence is still being determined.

Lifestyle Changes: There are certain factors that can trigger the symptoms of Brugada syndrome. Avoiding them can help avoid the symptoms.

  • Fever can be brought down using over-the-counter medicines
  • If sick with vomiting and fever, stay hydrated and replace the electrolytes
  • Avoid medications or drugs that trigger the symptoms.

If suffering from irregular heart rhythms or heart palpitations, then it is best to consult a doctor. It might be an indication of either Brugada syndrome or any other heart condition. Also, if having a family history of Brugada syndrome do not miss informing your doctor the same.

Brugada syndrome can lead to life-threatening conditions such as heart palpitations, fainting, and even death. Although there is no cure, the dangerous symptoms can be prevented.

Who Are At Risk For Brugada Syndrome?

Both women and men can be equally affected by Brugada syndrome. However, the rate of it occurring in men is often 8-10 times more than in females. People from all over the world have been reported to suffer from Brugada syndrome. However, even then it has been seen that the number is particularly high for the people living in Japan and Southeast Asia. It has been suggested that the causes of nearly 4 – 12% of the sudden death can be attributed to Brugada syndrome.(2) Again 20% of people with normal heart structures who dies suddenly can be due to Brugada syndrome. This syndrome can happen to people of any age; however, the condition occurs more frequently in men around the age group of 40 years. Brugada syndrome was first explained in the year 1992.

Brugada Syndrome and Related Disorders

There are other cardiac conditions that could be related to the condition of Brugada syndrome. One of them happens to be Romano ward syndrome. This is an inherited cardiac problem where the electrical beats of the heart are not in proper order. The other problem that can also be related to the Brugada syndrome is that of Arrhythmogenic cardiomyopathy. This is a really rare form of the nonischemic heart where the ventricular tissues of the right ventricle could be replaced by fatty tissues. The other related problem could be that of Duchenne muscular dystrophy. This is again a genetic disorder that is all the more prevalent amongst the male children.

Conclusion

Unfortunately, Brugada syndrome is a rare genetic disorder and the real reason or the cause that can trigger off the situation is still not known clearly. Not much of treatment for the condition is also known as of now. A lot of research is ongoing into the domain at this point of time so that improved treatment can be provided to Brugada syndrome patients.

References:

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