What is Brugada syndrome?

布鲁加达综合征是一种遗传性疾病，会导致危险的心律不齐. 当这种情况发生时，你的心脏的下腔(心室)跳动得很快，而且不规律. This prevents blood from circulating correctly in your body. 这是很危险的，可能会导致昏厥甚至死亡，尤其是在睡眠或休息时. The disease has been called sudden, 原因不明的夜间死亡综合症，因为患者经常在睡梦中死亡.

Brugada syndrome is rare. It affects about 5 of every 10,000 people worldwide. Symptoms often start during adulthood. But the disorder can develop at any age. This includes infancy. 首次确诊的平均年龄在40岁左右.

What causes Brugada syndrome?

Brugada综合征的遗传形式通常是由某些处理钠的基因缺陷引起的. But other genes can be involved, too. It can be inherited from just one parent. 但是有些人会产生新的基因缺陷，而不是从父母那里遗传. 这些基因缺陷导致心肌细胞内钠离子通道出现故障. This may lead to abnormal heart rhythms. 

布鲁加达综合症有可能保持不活跃(休眠)，不会引起任何问题. But some medicines, can unmask the syndrome. These include antidepressants and antipsychotics, illegal drugs, conditions that cause fever, and electrolyte problems. 根据心电图上的某些特征，有些人似乎患有布鲁加达综合征。. But they don't actually have the disease itself. This is called a Brugada ECG pattern. 如果情况是短期的(暂时的)，则可能不会构成风险。. And if it doesn't cause symptoms or dangerous heart rhythms.

Who is at risk for Brugada syndrome?

患这种疾病的风险最大的是亚裔, particularly Japanese and Southeast Asian heritage. It occurs 8 to 10 times more often in men than in women. 研究人员认为，男性荷尔蒙睾丸激素可能是造成性别差异的原因之一.

What are the symptoms of Brugada syndrome?

Symptoms that may occur with Brugada syndrome include:

• Palpitations

• Fainting

• Sudden death or cardiac arrest

How is Brugada syndrome diagnosed?

如果您有上述任何症状而不能被其他更常见的疾病解释，您的医疗保健提供者可能会认为您患有Brugada综合征. 如果你有家族病史，他们也可能会怀疑. Or an unexplained sudden death in the family. An electrocardiogram (ECG) can help diagnose the disease. 具有典型心电图特征的人通常被诊断患有这种疾病，如果他们有:

• Fainting

• Sudden cardiac death

• 从心脏底腔开始的快速心率(室性心动过速)

• Family history of sudden cardiac death or Brugada syndrome

基因检测也可以帮助诊断病情.

如果诊断不明确，或者发现有Brugada心电图模式但没有症状，您可能会进行药物挑战测试. 这是在有专业监督的医院环境中完成的. You are given a medicine that blocks sodium channels. Then several ECGs are done to look for changes in.

Brugada综合征患者的一级亲属应进行筛查. 这可能至少包括健康史、体格检查和心电图. Genetic screening may also be used.

How is Brugada syndrome treated?

Currently, there is no cure for Brugada syndrome. 但是有一些方法可以保护人们免受这种疾病的危险后果. 植入心脏转复除颤器(ICD)可以帮助预防与布鲁加达综合征相关的猝死. When this device detects the start of an arrhythmia, 它会试图通过起搏来阻止它，或者给它一个电击，让它恢复到正常的节奏.

Medicines may also help prevent arrhythmias. 另一种可能但罕见的治疗选择是心脏消融术. 在这个过程中，发现导致危险心律失常的一小块心脏组织被破坏. Discuss all choices with a qualified healthcare provider.

远离某些会使Brugada综合征恶化的药物也很重要.

What are possible complications of Brugada syndrome?

Brugada综合征最严重的并发症是猝死. This often occurs while the person is sleeping.

What can I do to prevent Brugada syndrome?

许多Brugada综合征病例与遗传缺陷有关. 你不可能不继承这种病. 但识别这种情况是预防其可能并发症的关键. 如果你患有布鲁加达综合症并计划要孩子，你可能首先想和遗传咨询师谈谈.

When should I call my healthcare provider?

If you have any symptoms of ventricular arrhythmia, call 911 and get emergency medical help right away. 如果您认为由于家族病史或其他原因，您可能有患Brugada综合征的风险，请咨询医疗保健提供者进行检测.

Key points for Brugada syndrome

• 布鲁加达综合征是一种遗传性疾病，会导致心律不齐.

• It can be either inherited or acquired.

• Genetic testing can look for a mutation, such as with the SCN5A gene, that may help determine your risk.

• 如果诊断出Brugada综合征，可以考虑植入心律转复除颤器(ICD)来预防与该综合征相关的猝死.

• 如果你有任何室性心律失常的症状，立即寻求紧急医疗帮助.

Next steps

帮助您从医疗保健提供者那里获得最大收益的建议:

• Know the reason for your visit and what you want to happen.

• Before your visit, write down questions you want answered.

• 带一个人来帮你问问题，记住你的医生告诉你的.

• 在就诊时，写下新诊断的名称，以及任何新的药物、治疗方法或测试. 也写下你的医生给你的任何新指示.

• 了解为什么要开一种新药或治疗方法，以及它将如何帮助你. Also know what the side effects are.

• Ask if your condition can be treated in other ways.

• 了解为什么要推荐一个测试或程序，以及结果可能意味着什么.

• 知道如果你不吃药或不做检查或不做手术会发生什么.

• 如果你有后续预约，写下日期、时间和目的.

• 如果您有疑问，请了解如何与您的医疗保健提供者联系, especially after office hours or on weekends.