Klinische FragestellungAtrio-ventrikulärer Block, Differentialdiagnose

NGS +

• Alias: AV-Block
• Alias: Atrio-ventrikuläre Reizleitungsstörungen
• Alias: Atrioventricular junction conduction disturbances
• Allelic: Brachydactyly, type A2 (BMP2)
• Allelic: Cardiomyopathy, dilated, 1A (LMNA)
• Allelic: Carpal tunnel syndrome, familial (TTR)
• Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
• Allelic: Conotruncal heart malformations, variable (NKX2-5)
• Allelic: Dystransthyretinemic hyperthyroxinemia (TTR)
• Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
• Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
• Allelic: Epilepsy, idiopathic generalized, susceptibility to, 18 (HCN4)
• Allelic: Erythrokeratodermia variabilis et progressiva 6 (TRPM4)
• Allelic: Generalized epilepsy with febrile seizures plus, type 1 (SCN1B)
• Allelic: HFE hemochromatosis, modifier of (BMP2)
• Allelic: Heart-hand syndrome, Slovenian type (LMNA)
• Allelic: Holt-Oram syndrome (TBX5)
• Allelic: Hutchinson-Gilford progeria (LMNA)
• Allelic: Hypoplastic left heart syndrome 2 (NKX2-5)
• Allelic: Hypothyroidism, congenital nongoitrous, 5 (NKX2-5)
• Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
• Allelic: Long QT syndrome 1, acquired, susceptibility to (KCNQ1)
• Allelic: Malouf syndrome (LMNA)
• Allelic: Mandibuloacral dysplasia (LMNA)
• Allelic: Muscular dystrophy, congenital (LMNA)
• Allelic: Muscular dystrophy, limb-girdle, AR 25 (BVES)
• Allelic: Restrictive dermopathy 2 (LMNA)
• Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
• Allelic: Short stature, facial dysmorphism + skeletal anomalies +/- cardiac anomalies 1 (BMP2)
• Allelic: Sudden infant death syndrome, susceptibility to (SCN5A)
• Allelic: Ventricular septal defect 3 (NKX2-5)
• Amyloidosis, hereditary, transthyretin-related (TTR)
• Andersen syndrome (KCNJ2)
• Atrial fibrillation [ESC guidelines] (TBX5)
• Atrial fibrillation, familial, 10 (SCN5A)
• Atrial fibrillation, familial, 11 (GJA5)
• Atrial fibrillation, familial, 13 (SCN1B)
• Atrial fibrillation, familial, 3 (KCNQ1)
• Atrial fibrillation, familial, 9 (KCNJ2)
• Atrial septal defect 3 [ESC guidelines] (TBX5)
• Atrial septal defect 7, +/- AV conduction defects (NKX2-5)
• Atrial standstill, digenic (GJA5/SCN5A)
• Atrioventricular block [ESC guidelines] (BVES)
• Atrioventricular block [ESC guidelines] (GJA5)
• Atrioventricular block [ESC guidelines] (KCNK17)
• Atrioventricular block [ESC guidelines] (LMNA)
• Atrioventricular block [ESC guidelines] (POPDC2)
• Atrioventricular block [ESC guidelines] (SCN5A)
• Atrioventricular block [ESC guidelines] (TBX5)
• Atrioventricular block [ESC guidelines] (TRPM4)
• Atrioventricular block {disease} [MONDO:0000465] (DES)
• Brugada syndrome 1 (SCN5A)
• Brugada syndrome 3 (CACNA1C)
• Brugada syndrome 5 (SCN1B)
• Brugada syndrome 8 (HCN4)
• Bundle branch block [ESC guidelines] (KCNK17)
• Bundle branch block [ESC guidelines] (TRPM4)
• Cardiac conduction defect, nonspecific (SCN1B)
• Cardiac conduction disease +/- dilated cardiomyopathy (NNI3K)
• Cardiomyopathy, dilated, 1E (SCN5A)
• Cardiomyopathy, dilated, 1I (DES)
• Cardiomyopathy, hypertrophic 6 (PRKAG2)
• Danon disease (LAMP2)
• Developmental and epileptic encephalopathy 52 (SCN1B)
• Emery-Dreifuss muscular dystrophy 1, XL (EMD)
• Fabry disease (GLA)
• Fabry disease, cardiac variant (GLA)
• Glycogen storage disease of heart, lethal congenital (PRKAG2)
• Heart block, nonprogressive (SCN5A)
• Heart block, progressive, type IA (SCN5A)
• Holt-Oram syndrome (TBX5)
• Jervell and Lange-Nielsen syndrome (KCNQ1)
• Long QT syndrome 1 (KCNQ1)
• Long QT syndrome 2 (KCNH2)
• Long QT syndrome 3 (SCN5A)
• Long QT syndrome 8 (CACNA1C)
• Myopathy, myofibrillar, 1 (DES)
• Myotonic dystrophy 1 (DMPK)
• Neurodevelopmental disorder with hypotonia, language delay, skeletal defects +/- seizures (CACNA1C)
• Progressive cardiac conduction defect [ESC guidelines] (KCNK17)
• Progressive cardiac conduction defect [ESC guidelines] (LMNA)
• Progressive cardiac conduction defect [ESC guidelines] (TRPM4)
• Progressive familial heart block, type IB (TRPM4)
• Short QT syndrome 1 (KCNH2)
• Short QT syndrome 2 (KCNQ1)
• Short QT syndrome 3 (KCNJ2)
• Sick sinus syndrome 1 (SCN5A)
• Sick sinus syndrome 2 (HCN4)
• Sinus bradycardia [ESC guidelines] (LMNA)
• Tetralogy of Fallot (NKX2-5)
• Timothy syndrome (CACNA1C)
• Ulnar-mammary syndrome (TBX3)
• Ventricular fibrillation, familial, 1 (SCN5A)
• Wolff-Parkinson-White syndrome (PRKAG2)