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Brugada syndrome 2(BRGDA2)

MedGen UID:
382031
Concept ID:
C2673193
Disease or Syndrome
Synonym: BRGDA2
 
Gene (location): GPD1L (3p22.3)
 
Monarch Initiative: MONDO:0012728
OMIM®: 611777

Disease characteristics

Excerpted from the GeneReview: Brugada Syndrome
Brugada syndrome is characterized by cardiac conduction abnormalities (ST segment abnormalities in leads V1-V3 on EKG and a high risk for ventricular arrhythmias) that can result in sudden death. Brugada syndrome presents primarily during adulthood, although age at diagnosis may range from infancy to late adulthood. The mean age of sudden death is approximately 40 years. Clinical presentations may also include sudden infant death syndrome (SIDS; death of a child during the first year of life without an identifiable cause) and sudden unexpected nocturnal death syndrome (SUNDS), a typical presentation in individuals from Southeast Asia. Other conduction defects can include first-degree AV block, intraventricular conduction delay, right bundle branch block, and sick sinus syndrome. [from GeneReviews]
Authors:
Ramon Brugada  |  Oscar Campuzano  |  Georgia Sarquella-Brugada, et. al.   view full author information

Additional description

From OMIM
Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by Antzelevitch et al., 2005). For a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 (601144).  http://www.omim.org/entry/611777

Clinical features

From HPO
Sudden cardiac death
MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
Syncope
MedGen UID:
21443
Concept ID:
C0039070
Sign or Symptom
Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
Ventricular fibrillation
MedGen UID:
21844
Concept ID:
C0042510
Disease or Syndrome
Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.
First degree atrioventricular block
MedGen UID:
43215
Concept ID:
C0085614
Disease or Syndrome
Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles.
Right bundle branch block
MedGen UID:
88445
Concept ID:
C0085615
Disease or Syndrome
A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.
Prolonged PR interval
MedGen UID:
154645
Concept ID:
C0600125
Finding
Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex).

Professional guidelines

PubMed

Serra G, Baranchuk A, Bayés-De-Luna A, Brugada J, Goldwasser D, Capulzini L, Arazo D, Boraita A, Heras ME, Garcia-Niebla J, Elosua R, Brugada R, Brugada P
Europace 2014 Nov;16(11):1639-45. Epub 2014 Mar 6 doi: 10.1093/europace/euu025. PMID: 24603955

Recent clinical studies

Etiology

Kahle AK, Senges J, Hochadel M, Brachmann J, Thomas D, Straube F, Bonaventura K, Larbig R, Werner N, Butter C, Alken FA, Meyer C
Sci Rep 2023 Jul 27;13(1):12182. doi: 10.1038/s41598-023-37440-2. PMID: 37500680Free PMC Article
Nakamura T, Aiba T, Shimizu W, Furukawa T, Sasano T
Circ J 2023 Jun 23;87(7):1007-1014. Epub 2022 Nov 12 doi: 10.1253/circj.CJ-22-0496. PMID: 36372400
Tsuneoka H, Takagi M, Murakoshi N, Yamagishi K, Yokoyama Y, Xu D, Sekiguchi Y, Yamasaki H, Naruse Y, Ito Y, Igarashi M, Kitamura A, Okada T, Tanigawa T, Kuga K, Ohira T, Tada H, Aonuma K, Iso H; CIRCS Investigators
J Am Heart Assoc 2016 Aug 8;5(8) doi: 10.1161/JAHA.115.002899. PMID: 27503848Free PMC Article
Wong LC, Roses-Noguer F, Till JA, Behr ER
Circ Arrhythm Electrophysiol 2014 Oct;7(5):800-6. Epub 2014 Sep 6 doi: 10.1161/CIRCEP.114.001818. PMID: 25194972
Serra G, Baranchuk A, Bayés-De-Luna A, Brugada J, Goldwasser D, Capulzini L, Arazo D, Boraita A, Heras ME, Garcia-Niebla J, Elosua R, Brugada R, Brugada P
Europace 2014 Nov;16(11):1639-45. Epub 2014 Mar 6 doi: 10.1093/europace/euu025. PMID: 24603955

Diagnosis

Battineni A, Gummi R, Mullaguri N, Govindarajan R
J Med Case Rep 2017 Jul 14;11(1):192. doi: 10.1186/s13256-017-1356-6. PMID: 28705229Free PMC Article
Tsuneoka H, Takagi M, Murakoshi N, Yamagishi K, Yokoyama Y, Xu D, Sekiguchi Y, Yamasaki H, Naruse Y, Ito Y, Igarashi M, Kitamura A, Okada T, Tanigawa T, Kuga K, Ohira T, Tada H, Aonuma K, Iso H; CIRCS Investigators
J Am Heart Assoc 2016 Aug 8;5(8) doi: 10.1161/JAHA.115.002899. PMID: 27503848Free PMC Article
Gottschalk BH, Garcia-Niebla J, Anselm DD, Jaidka A, De Luna AB, Baranchuk A
J Electrocardiol 2016 Mar-Apr;49(2):187-91. Epub 2015 Dec 23 doi: 10.1016/j.jelectrocard.2015.12.011. PMID: 26851992
Wong LC, Roses-Noguer F, Till JA, Behr ER
Circ Arrhythm Electrophysiol 2014 Oct;7(5):800-6. Epub 2014 Sep 6 doi: 10.1161/CIRCEP.114.001818. PMID: 25194972
de Luna AB, Garcia-Niebla J, Baranchuk A
Curr Cardiol Rev 2014 Aug;10(3):175-80. doi: 10.2174/1573403x10666140514101546. PMID: 24827804Free PMC Article

Therapy

Kahle AK, Senges J, Hochadel M, Brachmann J, Thomas D, Straube F, Bonaventura K, Larbig R, Werner N, Butter C, Alken FA, Meyer C
Sci Rep 2023 Jul 27;13(1):12182. doi: 10.1038/s41598-023-37440-2. PMID: 37500680Free PMC Article
Furniss G
BMJ Case Rep 2012 Aug 13;2012 doi: 10.1136/bcr.04.2011.4156. PMID: 22891011Free PMC Article
MacCormick JM, Crawford JR, Chung SK, Shelling AN, Evans CA, Rees MI, Smith WM, Crozier IG, McAlister H, Skinner JR
Heart Lung Circ 2011 Sep;20(9):593-8. Epub 2011 May 26 doi: 10.1016/j.hlc.2011.04.036. PMID: 21616715

Prognosis

Nakamura T, Aiba T, Shimizu W, Furukawa T, Sasano T
Circ J 2023 Jun 23;87(7):1007-1014. Epub 2022 Nov 12 doi: 10.1253/circj.CJ-22-0496. PMID: 36372400
Tsuneoka H, Takagi M, Murakoshi N, Yamagishi K, Yokoyama Y, Xu D, Sekiguchi Y, Yamasaki H, Naruse Y, Ito Y, Igarashi M, Kitamura A, Okada T, Tanigawa T, Kuga K, Ohira T, Tada H, Aonuma K, Iso H; CIRCS Investigators
J Am Heart Assoc 2016 Aug 8;5(8) doi: 10.1161/JAHA.115.002899. PMID: 27503848Free PMC Article
Gottschalk BH, Garcia-Niebla J, Anselm DD, Jaidka A, De Luna AB, Baranchuk A
J Electrocardiol 2016 Mar-Apr;49(2):187-91. Epub 2015 Dec 23 doi: 10.1016/j.jelectrocard.2015.12.011. PMID: 26851992
Wong LC, Roses-Noguer F, Till JA, Behr ER
Circ Arrhythm Electrophysiol 2014 Oct;7(5):800-6. Epub 2014 Sep 6 doi: 10.1161/CIRCEP.114.001818. PMID: 25194972
Serra G, Baranchuk A, Bayés-De-Luna A, Brugada J, Goldwasser D, Capulzini L, Arazo D, Boraita A, Heras ME, Garcia-Niebla J, Elosua R, Brugada R, Brugada P
Europace 2014 Nov;16(11):1639-45. Epub 2014 Mar 6 doi: 10.1093/europace/euu025. PMID: 24603955

Clinical prediction guides

Kahle AK, Senges J, Hochadel M, Brachmann J, Thomas D, Straube F, Bonaventura K, Larbig R, Werner N, Butter C, Alken FA, Meyer C
Sci Rep 2023 Jul 27;13(1):12182. doi: 10.1038/s41598-023-37440-2. PMID: 37500680Free PMC Article
Nakamura T, Aiba T, Shimizu W, Furukawa T, Sasano T
Circ J 2023 Jun 23;87(7):1007-1014. Epub 2022 Nov 12 doi: 10.1253/circj.CJ-22-0496. PMID: 36372400
Tsuneoka H, Takagi M, Murakoshi N, Yamagishi K, Yokoyama Y, Xu D, Sekiguchi Y, Yamasaki H, Naruse Y, Ito Y, Igarashi M, Kitamura A, Okada T, Tanigawa T, Kuga K, Ohira T, Tada H, Aonuma K, Iso H; CIRCS Investigators
J Am Heart Assoc 2016 Aug 8;5(8) doi: 10.1161/JAHA.115.002899. PMID: 27503848Free PMC Article
Gottschalk BH, Garcia-Niebla J, Anselm DD, Jaidka A, De Luna AB, Baranchuk A
J Electrocardiol 2016 Mar-Apr;49(2):187-91. Epub 2015 Dec 23 doi: 10.1016/j.jelectrocard.2015.12.011. PMID: 26851992
Wong LC, Roses-Noguer F, Till JA, Behr ER
Circ Arrhythm Electrophysiol 2014 Oct;7(5):800-6. Epub 2014 Sep 6 doi: 10.1161/CIRCEP.114.001818. PMID: 25194972

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