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Brugada syndrome 1

Synonyms
Right bundle branch block, ST segment elevation, and sudden death syndrome; SCN5A-Related Brugada Syndrome

Summary

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.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Ramon Brugada
Oscar Campuzano
Georgia Sarquella-Brugada
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Available tests

109 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (109 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDCD2, CMD1E, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, VF1, SCN5A
    Summary: sodium voltage-gated channel alpha subunit 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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