IllnessBrugada syndrome {EMQN 2023]

BS0150_DH

Brugada syndrome (BS) causes ventricular arrhythmias. If left untreated, the irregular rhythms can cause syncope, seizures, respiratory distress or sudden death. These complications usually occur when the affected person is resting or sleeping. Often BS becomes apparent in adulthood, but can also occur at any time during life. Sudden cardiac death usually occurs around the age of 40. Some cases of sudden infant death can also be explained by BS. Another acute unexplained death syndrome is due to unexpected cardiac arrest in young adults, usually at night during sleep. It has long been assumed that BS can be caused by mutations in several genes. Of >20 initially clinically curated genes, an expert biocurator commission classified only the SCN5A gene as definitely causing BS. Yet the SCN5A gene is only altered in some 30% of BS patients. Mutations in all other genes, that cause BS according to the extended clinical definition, explain about 2% of cases. BS is inherited in an autosomal dominant manner. Certain drugs can cause a rare acquired BS-like disorder. Since no causative mutation is detectable in 2/3 of BS cases, a negative DNA test result does not exclude the clinical diagnosis.

References: https://www.ncbi.nlm.nih.gov/books/NBK1517/

https://pubmed.ncbi.nlm.nih.gov/29959160/

• Alias: BGS 1
• Alias: Bangungut
• Alias: Idiopathic ventricular fibrillation, Brugada type
• Alias: Pokkuri death syndrome
• Alias: Sudden unexpected nocturnal death syndrome
• Alias: Sudden unexplained death syndrome
• Allelic: Atrial fibrillation, familial, 10 (SCN5A)
• Allelic: Cardiomyopathy, dilated, 1E (SCN5A)
• Allelic: Heart block, nonprogressive (SCN5A)
• Allelic: Heart block, progressive, type IA (SCN5A)
• Allelic: Long QT syndrome 3 (SCN5A)
• Allelic: Sick sinus syndrome 1 (SCN5A)
• Allelic: Sudden infant death syndrome, susceptibility to (SCN5A)
• Allelic: Ventricular fibrillation, familial, 1 (SCN5A)
• Brugada syndrome 1 (SCN5A)