IllnessBrugada-Syndrom [erweitertes panel], Differentialdiagnose

NGS +

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 (SCN5A)
• Alias: BGS; BRGDS; Dream disease
• Alias: Bangungut
• Alias: Idiopathic ventricular fibrillation, Brugada type
• Alias: Pokkuri death syndrome
• Alias: Right bundle branch block, ST segment elevation, Sudden death syndrome
• Alias: Sudden unexpected nocturnal death syndrome
• Alias: Sudden unexplained death syndrome
• Alias: Sudden unexplained nocturnal death syndrome, SUNDS
• Allelic: Arrhythmogenic right ventricular dysplasia 8 (DSP)
• Allelic: Arrhythmogenic right ventricular dysplasia 9 (PKP2)
• Allelic: Atrial fibrillation, familial, 10 (SCN5A)
• Allelic: Atrial fibrillation, familial, 12 (ABCC9)
• Allelic: Atrial fibrillation, familial, 13 (SCN1B)
• Allelic: Atrial fibrillation, familial, 14 (SCN2B)
• Allelic: Atrial fibrillation, familial, 16 (SCN3B)
• Allelic: Atrial fibrillation, familial, 4 (KCNE2)
• Allelic: Bronchiectasis +/- elevated sweat chloride 2 (SCNN1A)
• Allelic: Cardiac conduction defect, nonspecific (SCN1B)
• Allelic: Cardiomyopathy, dilated, 1 (TTN)
• Allelic: Cardiomyopathy, dilated, 1E (SCN5A)
• Allelic: Cardiomyopathy, dilated, 1O (ABCC9)
• Allelic: Cardiomyopathy, dilated, 1P (PLN) 3
• Allelic: Cardiomyopathy, dilated, with woolly hair + keratoderma (DSP)
• Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
• Allelic: Cardiomyopathy, hypertrophic, 18 (PLN)
• Allelic: Congenital myopathy 5 + cardiomyopathy (TTN)
• Allelic: Developmental and epileptic encephalopathy 110 (CACNA2D1)
• Allelic: Developmental and epileptic encephalopathy 47 (FGF12)
• Allelic: Dilated cardiomyopathy with woolly hair, keratoderma, tooth agenesis (DSP)
• Allelic: Epidermolysis bullosa, lethal acantholytic (DSP)
• Allelic: Epilepsy, gen., febrile seizures plus, 1 (SCN1B)
• Allelic: Epilepsy, idiopathic generalized, susceptibility to, 18 (HNC4)
• Allelic: Epileptic encephalopathy, early infant., 52 (SCN1B)
• Allelic: Episodic pain syndrome, familial, 2 (SCN10A)
• Allelic: Erythroderma, congenital, + palmoplantar keratoderma, hypotrichosis, hyper IgE (DSG1)
• Allelic: Erythrokeratodermia veriabilis et progressiva 6 (TRPM4)
• Allelic: Heart block, nonprogressive (SCN5A)
• Allelic: Heart block, progressive, type IA (SCN5A)
• Allelic: Holt-Oram syndrome (TBX5)
• Allelic: Hyperkalemic periodic paralysis, type 2 (SCN4A)
• Allelic: Hypertrichotic osteochondrodysplasia (ABCC9)
• Allelic: Hypogonadotropic hypogonadism 16 +/- anosmia (SEMA3A)
• Allelic: Hypokalemic periodic paralysis, type 2 (SCN4A)
• Allelic: Hypokalemic tubulopathy and deafness (KCNJ16)
• Allelic: Keratosis palmoplantaris striata I, AD (DSG1)
• Allelic: Keratosis palmoplantaris striata II (DSP)
• Allelic: LQTS2; SQTS1 (KCNH2)
• Allelic: Liddle syndrome 3 (SCNN1A)
• Allelic: Long QT syndrome (CACNA1C)
• Allelic: Long QT syndrome 2 (KCNH2)
• Allelic: Long QT syndrome 3 (SCN5A)
• Allelic: Long QT syndrome 4 (ANK2)
• Allelic: Long QT syndrome 6 (KCNE2)
• Allelic: Muscular dystrophy, limb-girdle, AR 10 (TTN)
• Allelic: Myasthenic syndrome, congenital, 16 (SCN4A)
• Allelic: Myopathy, myofibrillar, 9, + early respiratory failure (TTN)
• Allelic: Myotonia congenita, atypical, acetazolamide-responsive (SCN4A)
• Allelic: Paramyotonia congenita (SCN4A)
• Allelic: Progressive familial heart block, type IB (TRPM4)
• Allelic: Pseudohypoaldosteronism, type IB1, AR (SCNN1A)
• Allelic: Short QT syndrome 1 (KCNH2)
• Allelic: Short stature, developmental delay, and congenital heart defects (TKT)
• Allelic: Sick sinus syndrome 1 (SCN5A)
• Allelic: Sick sinus syndrome 2 (HNC4)
• Allelic: Skin fragility-woolly hair syndrome (DSP)
• Allelic: Spinocerebellar ataxia 19 (KCND3)
• Allelic: Sudden infant death syndrome, susceptibility to (SCN5A)
• Allelic: Tibial muscular dystrophy, tardive (TTN)
• Allelic: Timothy syndrome (CACNA1C)
• Allelic: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release def. s. (RYR2)
• Allelic: Ventricular fibrillation, familial, 1 (SCN5A)
• Allelic: Ventricular tachycardia, catecholaminergic polymorphic, 1 (RYR2)
• Allelic: Ventricular tachycardia, catecholaminergic polymorphic, 2 (CASQ2)
• Brugada syndrome (KCNE5)
• Brugada syndrome 1 (SCN5A)
• Brugada syndrome 2 (GPD1L)
• Brugada syndrome 3 (CACNA1C)
• Brugada syndrome 4 (CACNB2)
• Brugada syndrome 5 (SCN1B)
• Brugada syndrome 6 (KCNE3)
• Brugada syndrome 7 (SCN3B)
• Brugada syndrome 8 (HNC4)
• Brugada syndrome 9 (KCND3)
• Brugada syndrome ass. (ANK2, CACNA2D1, CASQ2, DSG1, DSP, FGF12, HEY2, KCNAB2, KCNB2, KCND2, KCNE2)
• Brugada syndrome ass. (KCNE5, KCNH2, KCNJ16, KCNJ8, LRRC10, PLN, PKP2, RANGRF, RYR2, SCN10A, SCN2B)
• Brugada syndrome ass. (SCN4A, SCNN10A, SLMAP, TBX5, TKT, TRPM4, TTN, XIRP1, XIRP2)
• Cardiac arrhythmia, ankyrin-B-related (ANK2)