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Common Rare Disease Series 1. Brugada Syndrome

 Here are main rare diseases. It is rare, but it can be you, your family or anyone who gets this disease. That's why these diseases are called common rare diseases. Most of these diseases are curable or at least, manageable for lifetime. However, who do you consult with about these diseases? That is the question. It is rare disease, consequently, the specialists for these diseases are also rare. will help you find the right specialist over the world in case that you have these problems. 


Series 1. Brugada Syndrome



Brugada syndrome (BrS) is a genetic disorder in which the electrical activity within the heart is abnormal. It increases the risk of abnormal heart rhythms and sudden cardiac death. Those affected may have episodes of passing out. The abnormal heart rhythms seen in those with Brugada syndrome often occur at rest and may be triggered by a fever. About a quarter of those with Brugada syndrome have a family member who also has the condition. Some cases may be due to a new genetic mutation or certain medications. Diagnosis is typically by electrocardiogram (ECG), however, the abnormalities may not be consistently present. Similar ECG patterns may be seen in certain electrolyte disturbances or when the blood supply to the heart has been reduced.


 There is no cure for Brugada syndrome. Those at higher risk of sudden cardiac death may be treated using an implantable cardioverter defibrillator (ICD). In those without symptoms the risk of death is much lower, and how to treat this group is less clear. Isoproterenol may be used in the short term for those who have frequent life-threatening abnormal heart rhythms, while quinidine may be used longer term. The condition affects between 1 and 30 per 10,000 people. It is more common in males than females and in those of Asian descent. The onset of symptoms is usually in adulthood.