Klinische FragestellungBrugada-Syndrom [erweitertes panel], Differentialdiagnose

NGS +

ST-Segment Hebungen rechts präcordial, in-/kompletter Rechtsschenkelblock, Neigung zu ventrikulärer Tachyarrhythmie + plötzlichem Tod; "elektrische Erkrankung" ohne offenkundige myokardiale Abweichungen

• Alias: BGS 1 (SCN5A)
• Alias: BGS; BRGDS; Bangungut; Dream disease; Pokkuri death syndrome
• Alias: Idiopathic ventricular fibrillation, Brugada type
• Alias: Right bundle branch block, ST segment elevation, Sudden 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 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. (CACNA2D1, CASQ2, DSG1, DSP, FGF12, HEY2, KCNAB2, KCNB2, KCND2, KCNE2)
• Brugada syndrome ass. (KCNE5, KCNH2, KCNJ16, KCNJ8, LRRC10, PLN, PKP2, RANGRF, RYR2, SCN10A)
• Brugada syndrome ass. (SCN2B, SCN4A, SCNN10A, SLMAP, TBX5, TKT, TRPM4, TTN, XIRP1, XIRP2)