Klinische FragestellungKammerflimmern II, Differentialdiagnose erweitert

NGS +

• Alias: Idiopathic ventricular fibrillation
• Alias: Kammerflimmern, familiäres paroxysmales (nicht Brugada-Typ)
• Alleic: Skin fragility-woolly hair syndrome (DDSP)
• Allelic: Agenesis of corpus callosum, cardiac, ocular + genital syndrome (CDH2)
• Allelic: Atrial fibrillation, familial, 10 (SCN5A)
• Allelic: Atrial septal defect 3 (MYH6)
• Allelic: Atrial septal defect 5 (ACTC1)
• Allelic: Attention deficit-hyperactivity disorder 8 (CDH2)
• Allelic: Brugada syndrome 1 (SCN5A)
• Allelic: Cardiomyopathy, dilated, 1E (SCN5A)
• Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
• Allelic: Epidermolysis bullosa, lethal acantholytic (DSP)
• Allelic: Epilepsy, idiopathic generalized, susceptibility to, 18 (HCN4)
• Allelic: Fibromatosis, gingival, 1 (SOS1)
• Allelic: Glycogen storage disease of heart, lethal congenital (PRKAG2)
• Allelic: Heart block, nonprogressive (SCN5A)
• Allelic: Heart block, progressive, type IA (SCN5A)
• Allelic: Hutchinson-Gilford progeria (LMNA)
• Allelic: Hypertrichotic osteochondrodysplasia, Cantu syndrome (ABCC9)
• Allelic: Intellectual disability + myopathy syndrome (ABCC9)
• Allelic: Keratosis palmoplantaris striata II (DSP)
• Allelic: Laing distal myopathy (MYH7)
• Allelic: Leukemia, juvenile myelomonocytic (NF1)
• Allelic: Leukoencephalopathy, progressive, with ovarian failure (AARS2)
• Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
• Allelic: Long QT syndrome 3 (SCN5A)
• Allelic: Mandibuloacral dysplasia (LMN)
• Allelic: Metachondromatosis (PTPN11)
• Allelic: Muscular dystrophy, congenital (LMNA)
• Allelic: Muscular dystrophy, limb-girdle, AR 10 (TTN)
• Allelic: Muscular dystrophy, limb-girdle, AR 6 (SGCD)
• Allelic: Myopathy, XL, with postural muscle atrophy (FHL1)
• Allelic: Myopathy, congenital with structured cores and Z-line abnormalities (ACTN2)
• Allelic: Myopathy, distal, 4 (FLNC)
• Allelic: Myopathy, distal, 6, adult onset (ACTN2)
• Allelic: Myopathy, myofibrillar, 1 (DES)
• Allelic: Myopathy, myofibrillar, 5 (FLNC)
• Allelic: Myopathy, myofibrillar, 6 (BAG3)
• Allelic: Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
• Allelic: Myopathy, myosin storage, AD (MYH7)
• Allelic: Myopathy, myosin storage, AR (MYH7)
• Allelic: Reducing body myopathy, XL 1a, severe, infantile or early childhood onset (FHL1)
• Allelic: Reducing body myopathy, XL 1b, with late childhood or adult onset (FHL1)
• Allelic: Restrictive dermopathy, lethal (LMNA)
• Allelic: Scapuloperoneal myopathy, XLD (FHL1)
• Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
• Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
• Allelic: Schwannomatosis-2, susceptibility to (LZTR1)
• Allelic: Sick sinus syndrome 1 (SCN5A)
• Allelic: Sudden infant death syndrome, susceptibility to (SCN5A)
• Allelic: Tibial muscular dystrophy, tardive (TTN)
• Alstrom syndrome (ALMS1)
• Andersen syndrome (KCNJ2)
• Arrhythmogenic right ventricular dysplasia 10 (DSG2)
• Arrhythmogenic right ventricular dysplasia 11 (DSC2)
• Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma+ woolly hair (DSC2)
• Arrhythmogenic right ventricular dysplasia 12 (JUP)
• Arrhythmogenic right ventricular dysplasia 2 (RYR2)
• Arrhythmogenic right ventricular dysplasia 5 (TMEM43)
• Arrhythmogenic right ventricular dysplasia 8 (DSP)
• Arrhythmogenic right ventricular dysplasia 9 (PKP2)
• Arrhythmogenic right ventricular dysplasia, familial, 14 (CDH2)
• Atrial fibrillation, familial, 10 (SCN5A)
• Atrial fibrillation, familial, 12 (ABCC9)
• Atrial fibrillation, familial, 3 (KCNQ1)
• Atrial fibrillation, familial, 4 (KCNE2)
• Atrial fibrillation, familial, 9 (KCNJ2)
• Becker muscular dystrophy (DMD)
• Brugada syndrome 1 (SCN5A)
• Brugada syndrome 3 (CACNA1C)
• Brugada syndrome 8 (HCN4)
• Cardiac conduction disease with/-out dilated cardiomyopathy (TNNI3K)
• Cardiofaciocutaneous syndrome 4 (MAP2K2)
• Cardiomyopathy [panelapp] (PDLIM3)
• Cardiomyopathy, dilated, 1A (LMNA)
• Cardiomyopathy, dilated, 1AA, with or without LVNC (ACTN2)
• Cardiomyopathy, dilated, 1BB (DSG2)
• Cardiomyopathy, dilated, 1CC (NEXN)
• Cardiomyopathy, dilated, 1DD (RBM20)
• Cardiomyopathy, dilated, 1E (SCN5A)
• Cardiomyopathy, dilated, 1EE (MYH6)
• Cardiomyopathy, dilated, 1G (TTN)
• Cardiomyopathy, dilated, 1HH (BAG3)
• Cardiomyopathy, dilated, 1I (DES)
• Cardiomyopathy, dilated, 1L (SGCD)
• Cardiomyopathy, dilated, 1MM (MYBPC3)
• Cardiomyopathy, dilated, 1NN (RAF1)
• Cardiomyopathy, dilated, 1O (ABCC9)
• Cardiomyopathy, dilated, 1P (PLN)
• Cardiomyopathy, dilated, 1R (ACTC1)
• Cardiomyopathy, dilated, 1S (MYH7)
• Cardiomyopathy, dilated, 1Y (TPM1)
• Cardiomyopathy, dilated, 3B (DMD)
• Cardiomyopathy, dilated, with woolly hair + keratoderma (DSP)
• Cardiomyopathy, familial hypertrophic, 26 (FLNC)
• Cardiomyopathy, familial hypertrophic, 28 (FHOD3)
• Cardiomyopathy, familial hypertrophic, 9 (TTN)
• Cardiomyopathy, familial restrictive 5 (FLNC)
• Cardiomyopathy, hypertrophic 6 (PRKAG2)
• Cardiomyopathy, hypertrophic, 1 (MYH7)
• Cardiomyopathy, hypertrophic, 11 (ACTC1)
• Cardiomyopathy, hypertrophic, 14 (MYH6)
• Cardiomyopathy, hypertrophic, 18 (PLN)
• Cardiomyopathy, hypertrophic, 20 (NEXN)
• Cardiomyopathy, hypertrophic, 23, with or without LVNC (ACTN2)
• Cardiomyopathy, hypertrophic, 3 (TPM1)
• Cardiomyopathy, hypertrophic, 4 (MYBPC3)
• Carnitine deficiency, systemic primary (SLC22A5)
• Combined oxidative phosphorylation deficiency 8 (AARS2)
• Dilated cardiomyopathy with woolly hair, keratoderma + tooth agenesis (DSP)
• Duchenne muscular dystrophy (DMD)
• Emery-Dreifuss muscular dystrophy 1, XL (EMD)
• Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
• Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
• Emery-Dreifuss muscular dystrophy 6, XL (FHL1)
• Emery-Dreifuss muscular dystrophy 7, AD (TMEM43)
• Heart block, nonprogressive (SCN5A)
• Heart block, progressive, type IA (SCN5A)
• Heart-hand syndrome, Slovenian type (LMNA)
• Jervell + Lange-Nielsen syndrome (KCNQ1)
• Jervell + Lange-Nielsen syndrome 2 (KCNE1)
• Juvenile myelomonocytic leukemia (CBL)
• LEOPARD syndrome 1 (PTPN11)
• LEOPARD syndrome 2 (RAF1)
• Left ventricular noncompaction 10 (MYBPC3)
• Left ventricular noncompaction 4 (ACTC1)
• Left ventricular noncompaction 5 (MYH7)
• Left ventricular noncompaction 9 (TPM1)
• Long QT syndrome 1 (KCNQ1)
• Long QT syndrome 1, acquired, susceptibility to (KCNQ1)
• Long QT syndrome 14 (CALM1)
• Long QT syndrome 15 (CALM2)
• Long QT syndrome 16 (CALM3)
• Long QT syndrome 2 (KCNH2)
• Long QT syndrome 2, acquired, susceptibility to (KCNH2)
• Long QT syndrome 3 (SCN5A)
• Long QT syndrome 5 (KCNE1)
• Long QT syndrome 6 (KCNE2)
• Long QT syndrome 8 (CACNA1C)
• Malouf syndrome (LMN)
• Mitochondrial complex IV deficiency, nuclear type 13 (COA6)
• Naxos disease (JUP)
• Neurofibromatosis, familial spinal (NF1)
• Neurofibromatosis, type 1 (NF1)
• Neurofibromatosis-Noonan syndrome (NF1)
• Noonan syndrome 1 (PTPN11)
• Noonan syndrome 10 (LZTR1)
• Noonan syndrome 2 (LZTR1)
• Noonan syndrome 4 (SOS1)
• Noonan syndrome 5 (RAF1)
• Noonan syndrome 6 (NRAS)
• Noonan syndrome 9 (SOS2)
• Noonan syndrome-like disorder with/-out juvenile myelomonocytic leukemia (CBL)
• Salih myopathy (TTN)
• Short QT syndrome 1 (KCNH2)
• Short QT syndrome 2 (KCNQ1)
• Short QT syndrome 3 (KCNJ2)
• Sick sinus syndrome 1 (SCN5A)(SCN5A)
• Sick sinus syndrome 2 (HCN4)
• Sick sinus syndrome 3 (MYH6)
• Sudden infant death syndrome, susceptibility to (SCN5A)
• Timothy syndrome (CACNA1C)
• Uruguay faciocardiomusculoskeletal syndrome (FHL1)
• Ventricular fibrillation, familial, 1 (SCN5A)
• Ventricular tachycardia, catecholaminergic polymorphic 6 (CALM3)
• Ventricular tachycardia, catecholaminergic polymorphic, 1 (RYR2)
• Ventricular tachycardia, catecholaminergic polymorphic, 4 (CALM1)
• Ventricular tachycardia, catecholaminergic polymorphic, 5, with/-out muscle weakness (TRDN)
• Watson syndrome (NF1)
• Wolff-Parkinson-White syndrome (PRKAG2)