Brugada syndrome
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Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm. Specifically, this disorder can lead to irregular heartbeats in the heart's lower chambers (ventricles), which is 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.
Descrizione
Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm. Specifically, this disorder can lead to irregular heartbeats in the heart's lower chambers (ventricles), which is 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 it can develop any time throughout life. Signs and symptoms related to arrhythmias, including sudden death, can occur from early infancy to late adulthood. Sudden death typically occurs around age 40. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of death in babies younger than 1 year. SIDS is characterised by sudden and unexplained death, usually during sleep.
Sudden unexplained nocturnal death syndrome (SUNDS) is a condition characterised 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.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Altri nomi
Bangungut
Idiopathic ventricular fibrillation, Brugada type
Pokkuri death syndrome
Sudden unexpected nocturnal death syndrome
Sudden unexplained death syndrome
SUDS
SUNDS
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Ulteriori letture e riferimenti
- Brugada syndrome; MedlinePlus, National Library of Medicine.
- 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. doi: 10.1016/j.hrthm.2005.01.005.
- Antzelevitch C. Brugada syndrome: clinical, genetic, molecular, cellular and ionic aspects. Expert Rev Cardiovasc Ther. 2003 Jul;1(2):177-85. doi: 10.1586/14779072.1.2.177.
- Brugada P, Brugada J. Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report. J Am Coll Cardiol. 1992 Nov 15;20(6):1391-6. doi: 10.1016/0735-1097(92)90253-j.
- Brugada R, Campuzano O, Sarquella-Brugada G, Brugada J, Brugada P. Brugada syndrome. Methodist Debakey Cardiovasc J. 2014 Jan-Mar;10(1):25-8. doi: 10.14797/mdcj-10-1-25.
- Brugada R, Campuzano O, Sarquella-Brugada G, Brugada P, Brugada J, Hong K. Brugada Syndrome. 2005 Mar 31 [updated 2022 Aug 25]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1517/
- Crotti L, Marcou CA, Tester DJ, Castelletti S, Giudicessi JR, Torchio M, Medeiros-Domingo A, Simone S, Will ML, Dagradi F, Schwartz PJ, Ackerman MJ. Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. J Am Coll Cardiol. 2012 Oct 9;60(15):1410-8. doi: 10.1016/j.jacc.2012.04.037. Epub 2012 Jul 25.
- Francis J, Antzelevitch C. Brugada syndrome. Int J Cardiol. 2005 May 25;101(2):173-8. doi: 10.1016/j.ijcard.2004.03.068.
- Juang JM, Huang SK. Brugada syndrome--an under-recognized electrical disease in patients with sudden cardiac death. Cardiology. 2004;101(4):157-69. doi: 10.1159/000076693. Epub 2004 Feb 12.
- Le Scouarnec S, Karakachoff M, Gourraud JB, Lindenbaum P, Bonnaud S, Portero V, Duboscq-Bidot L, Daumy X, Simonet F, Teusan R, Baron E, Violleau J, Persyn E, Bellanger L, Barc J, Chatel S, Martins R, Mabo P, Sacher F, Haissaguerre M, Kyndt F, Schmitt S, Bezieau S, Le Marec H, Dina C, Schott JJ, Probst V, Redon R. Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome. Hum Mol Genet. 2015 May 15;24(10):2757-63. doi: 10.1093/hmg/ddv036. Epub 2015 Feb 3.
- Li A, Behr ER. Brugada syndrome: an update. Future Cardiol. 2013 Mar;9(2):253-71. doi: 10.2217/fca.12.82.
- Modell SM, Lehmann MH. The long QT syndrome family of cardiac ion channelopathies: a HuGE review. Genet Med. 2006 Mar;8(3):143-55. doi: 10.1097/01.gim.0000204468.85308.86.
- 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. doi: 10.1038/ncpcardio0268.
- Shimizu W. Acquired forms of the Brugada syndrome. J Electrocardiol. 2005 Oct;38(4 Suppl):22-5. doi: 10.1016/j.jelectrocard.2005.06.005.
- 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. doi: 10.1093/hmg/11.3.337.
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