Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

Brugada syndrome

Reviewed November 2006

What is Brugada syndrome?

Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm. Specifically, this disorder can lead to uncoordinated electrical activity in the heart's lower chambers (ventricles), an abnormality called ventricular arrhythmia. If untreated, the irregular heartbeats can cause fainting (syncope), seizures, difficulty breathing, or sudden death. These complications typically occur when an affected person is resting or asleep.

Brugada syndrome usually becomes apparent in adulthood, although signs and symptoms, including sudden death, can occur any time from early infancy to old age. The mean age of sudden death is approximately 40 years. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of death in babies younger than one year. It is characterized by sudden and unexplained death, usually during sleep.

Sudden unexplained nocturnal death syndrome (SUNDS) is a condition characterized by unexpected cardiac arrest in young adults, usually at night during sleep. This condition was originally described in Southeast Asian populations, where it is a major cause of death. Researchers have determined that SUNDS and Brugada syndrome are the same disorder.

How common is Brugada syndrome?

The exact prevalence of Brugada syndrome is unknown, although it is estimated to affect 5 in 10,000 people worldwide. This condition occurs much more frequently in people of Asian ancestry, particularly in Japanese and Southeast Asian populations.

Although Brugada syndrome affects both men and women, the condition appears to be 8 to 10 times more common in men. Researchers suspect that testosterone, a sex hormone present at much higher levels in men, may be responsible for this difference.

What genes are related to Brugada syndrome?

Mutations in the SCN5A gene cause Brugada syndrome.

Mutations in the SCN5A gene have been identified in fewer than one-third of people with Brugada syndrome. This gene provides instructions for making a sodium channel, which normally transports positively charged sodium atoms (ions) into heart muscle cells. This type of ion channel plays a critical role in maintaining the heart's normal rhythm. Mutations in the SCN5A gene alter the structure or function of the channel, which reduces the flow of sodium ions into cells. A disruption in ion transport alters the way the heart beats, leading to the abnormal heart rhythm characteristic of Brugada syndrome.

In affected people without an identified SCN5A mutation, the cause of Brugada syndrome is often unknown. In some cases, certain drugs may cause a nongenetic (acquired) form of the disorder. Drugs that can induce an altered heart rhythm include medications used to treat some forms of arrhythmia, a condition called angina (which causes chest pain), high blood pressure, depression, and other mental illnesses. Abnormally high blood levels of calcium (hypercalcemia) or potassium (hyperkalemia), as well as unusually low potassium levels (hypokalemia), also have been associated with acquired Brugada syndrome. In addition to causing a nongenetic form of this disorder, these factors may trigger symptoms in people with an underlying SCN5A mutation.

Related Gene(s)

Changes in this gene are associated with Brugada syndrome.

  • SCN5A

How do people inherit Brugada syndrome?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.

Where can I find information about diagnosis or management of Brugada syndrome?

These resources address the diagnosis or management of Brugada syndrome and may include treatment providers.

  • Gene Review: Brugada Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1517)
  • Genetic Testing Registry: Brugada syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1142166)
  • Genetic Testing Registry: Brugada syndrome 1 (http://www.ncbi.nlm.nih.gov/gtr/conditions/CN029323)
  • MedlinePlus Encyclopedia: Arrhythmias (http://www.nlm.nih.gov/medlineplus/ency/article/001101.htm)

You might also find information on the diagnosis or management of Brugada syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/brugada-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/brugada-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Brugada syndrome?

You may find the following resources about Brugada syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Brugada syndrome?

  • Sudden unexpected nocturnal death syndrome
  • Sudden unexplained death syndrome
  • SUDS

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Brugada syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Brugada syndrome?

angina ; arrhythmia ; autosomal ; autosomal dominant ; calcium ; cardiac ; cardiac arrest ; cell ; channel ; depression ; fainting ; gene ; hormone ; hypercalcemia ; hyperkalemia ; hypokalemia ; inherited ; ions ; ion transport ; muscle cells ; mutation ; nocturnal ; potassium ; prevalence ; sex hormone ; sodium ; sodium channel ; syncope ; syndrome ; testosterone

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Antzelevitch C, Brugada P, Borggrefe M, Brugada J, Brugada R, Corrado D, Gussak I, LeMarec H, Nademanee K, Perez Riera AR, Shimizu W, Schulze-Bahr E, Tan H, Wilde A. Brugada syndrome: report of the second consensus conference. Heart Rhythm. 2005 Apr;2(4):429-40. Review. Erratum in: Heart Rhythm. 2005 Aug;2(8):905. (http://www.ncbi.nlm.nih.gov/pubmed/15898165?dopt=Abstract)
  • Antzelevitch C, Brugada P, Brugada J, Brugada R, Shimizu W, Gussak I, Perez Riera AR. Brugada syndrome: a decade of progress. Circ Res. 2002 Dec 13;91(12):1114-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12480811?dopt=Abstract)
  • Antzelevitch C. Brugada syndrome: clinical, genetic, molecular, cellular and ionic aspects. Expert Rev Cardiovasc Ther. 2003 Jul;1(2):177-85. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15030278?dopt=Abstract)
  • Francis J, Antzelevitch C. Brugada syndrome. Int J Cardiol. 2005 May 25;101(2):173-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15882659?dopt=Abstract)
  • Gene Review: Brugada Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1517)
  • Juang JM, Huang SK. Brugada syndrome--an under-recognized electrical disease in patients with sudden cardiac death. Cardiology. 2004;101(4):157-69. Epub 2004 Feb 12. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14967959?dopt=Abstract)
  • Modell SM, Lehmann MH. The long QT syndrome family of cardiac ion channelopathies: a HuGE review. Genet Med. 2006 Mar;8(3):143-55. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16540748?dopt=Abstract)
  • Shimizu W, Aiba T, Kamakura S. Mechanisms of disease: current understanding and future challenges in Brugada syndrome. Nat Clin Pract Cardiovasc Med. 2005 Aug;2(8):408-14. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16119703?dopt=Abstract)
  • Shimizu W. Acquired forms of the Brugada syndrome. J Electrocardiol. 2005 Oct;38(4 Suppl):22-5. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16226070?dopt=Abstract)
  • Shimizu W. The Brugada syndrome--an update. Intern Med. 2005 Dec;44(12):1224-31. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16415541?dopt=Abstract)
  • Vatta M, Dumaine R, Varghese G, Richard TA, Shimizu W, Aihara N, Nademanee K, Brugada R, Brugada J, Veerakul G, Li H, Bowles NE, Brugada P, Antzelevitch C, Towbin JA. Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. Hum Mol Genet. 2002 Feb 1;11(3):337-45. (http://www.ncbi.nlm.nih.gov/pubmed/11823453?dopt=Abstract)
  • Wilde AA, Antzelevitch C, Borggrefe M, Brugada J, Brugada R, Brugada P, Corrado D, Hauer RN, Kass RS, Nademanee K, Priori SG, Towbin JA; Study Group on the Molecular Basis of Arrhythmias of the European Society of Cardiology. Proposed diagnostic criteria for the Brugada syndrome: consensus report. Circulation. 2002 Nov 5;106(19):2514-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12417552?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2006
Published: September 15, 2014