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Brugada syndrome 3(BRGDA3)

MedGen UID:
395633
Concept ID:
C2678478
Disease or Syndrome
Synonym: BRGDA3
 
Gene (location): CACNA1C (12p13.33)
 
Monarch Initiative: MONDO:0012742
OMIM®: 611875

Definition

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]

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 the genetic heterogeneity of Brugada syndrome, see BRGDA1 (601144).  http://www.omim.org/entry/611875

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).
Atrial fibrillation
MedGen UID:
445
Concept ID:
C0004238
Finding
An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.
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 arrhythmia
MedGen UID:
39082
Concept ID:
C0085612
Disease or Syndrome
A disorder characterized by an electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles.
Shortened QT interval
MedGen UID:
489827
Concept ID:
C0151879
Finding
Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
J wave
MedGen UID:
866319
Concept ID:
C4018858
Finding
The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point.

Recent clinical studies

Etiology

Steinberg C, Padfield GJ, Champagne J, Sanatani S, Angaran P, Andrade JG, Roberts JD, Healey JS, Chauhan VS, Birnie DH, Janzen M, Gerull B, Klein GJ, Leather R, Simpson CS, Seifer C, Talajic M, Gardner M, Krahn AD
Circ Arrhythm Electrophysiol 2016 Sep;9(9) doi: 10.1161/CIRCEP.115.004274. PMID: 27635072
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

Diagnosis

Steinberg C, Padfield GJ, Champagne J, Sanatani S, Angaran P, Andrade JG, Roberts JD, Healey JS, Chauhan VS, Birnie DH, Janzen M, Gerull B, Klein GJ, Leather R, Simpson CS, Seifer C, Talajic M, Gardner M, Krahn AD
Circ Arrhythm Electrophysiol 2016 Sep;9(9) doi: 10.1161/CIRCEP.115.004274. PMID: 27635072
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
Ağaç MT, Erkan H, Korkmaz L
Arch Cardiovasc Dis 2014 Aug-Sep;107(8-9):476-8. Epub 2013 Jan 16 doi: 10.1016/j.acvd.2012.06.008. PMID: 23791603

Therapy

Steinberg C, Padfield GJ, Champagne J, Sanatani S, Angaran P, Andrade JG, Roberts JD, Healey JS, Chauhan VS, Birnie DH, Janzen M, Gerull B, Klein GJ, Leather R, Simpson CS, Seifer C, Talajic M, Gardner M, Krahn AD
Circ Arrhythm Electrophysiol 2016 Sep;9(9) doi: 10.1161/CIRCEP.115.004274. PMID: 27635072
Ağaç MT, Erkan H, Korkmaz L
Arch Cardiovasc Dis 2014 Aug-Sep;107(8-9):476-8. Epub 2013 Jan 16 doi: 10.1016/j.acvd.2012.06.008. PMID: 23791603

Prognosis

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

Clinical prediction guides

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

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