Klinische FragestellungBradyarrythmie, kardiale; Differentialdiagnose

NGS +

• Alias: Atrioventricular junction conduction disturbances included
• Alias: Intraventricular conduction disturbances included
• Alias: Sinus bradycardia, sinus pause included
• Allelic: Cardiomyopathy, dilated, 1A (LMNA)
• Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
• Allelic: Developmental + epileptic encephalopathy 52 (SCN1B)
• 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: Episodic pain syndrome, familial, 2 (SCN10A)
• Allelic: Erythrokeratodermia variabilis et progressiva 6 (TRPM4)
• Allelic: Generalized epilepsy with febrile seizures plus, type 1 (SCN1B)
• Allelic: Heart-hand syndrome, Slovenian type (LMNA)
• Allelic: Holt-Oram syndrome (TBX5)
• Allelic: Hutchinson-Gilford progeria (LMNA)
• Allelic: Laing distal myopathy (MYH7)
• Allelic: Left ventricular noncompaction 5 (MYH7)
• Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
• Allelic: Malouf syndrome (LMNA)
• Allelic: Mandibuloacral dysplasia (LMNA)
• Allelic: Muscular dystrophy, congenital (LMNA)
• Allelic: Muscular dystrophy, limb-girdle, AR 25 (BVES)
• Allelic: Myopathy, myosin storage, AD (MYH7)
• Allelic: Myopathy, myosin storage, AR (MYH7)
• Allelic: Primary aldosteronism, seizures + neurologic abnormalities (CACNA1D)
• Allelic: Restrictive dermopathy 2 (LMNA)
• Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
• Allelic: Sudden infant death syndrome, susceptibility to (SCN5A)
• Andersen syndrome (KCNJ2)
• Arrhythmogenic right ventricular dysplasia 2 (RYR2)
• Atrial fibrillation [ESC guidelines] (MYH6)
• Atrial fibrillation [ESC guidelines] (MYH7)
• Atrial fibrillation [ESC guidelines] (SCN10A?)
• Atrial fibrillation [ESC guidelines] (TBX5)
• Atrial fibrillation, familial, 10 (SCN5A)
• Atrial fibrillation, familial, 11 (GJA5)
• Atrial fibrillation, familial, 13 (SCN1B)
• Atrial fibrillation, familial, 6 (NPPA)
• Atrial fibrillation, familial, 9 (KCNJ2)
• Atrial septal defect 3 (MYH6)
• Atrial septal defect 3 [ESC guidelines] (TBX5)
• Atrial standstill 2 (NPPA)
• 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)
• Brugada syndrome 1 (SCN5A)
• Brugada syndrome 5 (SCN1B)
• Brugada syndrome 8 (HCN4)
• Bundle branch block [ESC guidelines] (KCNK17)
• Bundle branch block [ESC guidelines] (SCN1B)
• Bundle branch block [ESC guidelines] (TRPM4)
• Cardiac arrhythmia, ankyrin-B-related (ANK2)
• Cardiac conduction defect, nonspecific (SCN1B)
• Cardiomyopathy, dilated, 1E (SCN5A)
• Cardiomyopathy, dilated, 1EE (MYH6)
• Cardiomyopathy, dilated, 1S (MYH7)
• Cardiomyopathy, hypertrophic, 1 (MYH7)
• Cardiomyopathy, hypertrophic, 14 (MYH6)
• Heart block, nonprogressive (SCN5A)
• Heart block, progressive, type IA (SCN5A)
• Long QT syndrome 3 (SCN5A)
• Long QT syndrome 4 (ANK2)
• 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 3 (KCNJ2)
• Sick sinus syndrome 1 (SCN5A)
• Sick sinus syndrome 2 (HCN4)
• Sick sinus syndrome 3 (MYH6)
• Sinoatrial node dysfunction + deafness (CACNA1D)
• Sinus bradycardia [ESC guidelines] (LMNA)
• Sinus bradycardia [ESC guidelines] (MYH7)
• Sinus bradycardia [ESC guidelines] (RYR2)
• Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome (RYR2)
• Ventricular fibrillation, familial, 1 (SCN5A)
• Ventricular tachycardia, catecholaminergic polymorphic, 1 (RYR2)
• Ventricular tachycardia, catecholaminergic polymorphic, 2 (CASQ2)