IllnessConduction disorders, cardiac; differential diagnosis

NGS +

In addition to disturbances in stimulus formation, disturbances in cardiac conduction can also lead to cardiac arrhythmias. Excitation conduction disorders cause arrhythmias in the closed conduction pathways or also in the spatial whole-cell association. Atrial and ventricular fibrillation result from circular excitations. Normal excitation of the heart follows a predetermined pathway, resulting in coordinated pumping of the cardiac muscles. Cardiac conduction disorders include long-QT and short-QT syndromes, Brugada syndrome, progressive cardiac conduction disorder/heart block, and familial sinus node syndrome/sick sinus syndrome. Furthermore, certain forms of (dilated) cardiomyopathies as well as some other hereditary syndromes (anatomical heart defects, Danon and Holt-Oram syndromes, certain muscular dystrophies, metabolic disorders etc.) impede physiological conduction. These syndromes may lead to syncopes, seizures, respiratory problems or sudden cardiac death, often at rest or during sleep. Most conduction disorders are inherited in an autosomal dominant manner, less commonly in X-linked manner. The molecular genetic yield in this complex group of disorders is still largely unresolved, but probably rarely ranks higher than 30-40%, especially since variants of unknown significance are encountered frequently. Therefore, a negative DNA-diagnostic result virtually never excludes the clinical diagnosis of excitation conduction disorder.

Reference: https://academic.oup.com/europace/article/21/8/1145/5480390?login=true

• Alias: Conduction disorder/defect
• Alias: Disturbance of conduction
• Alias: Idiopathische Erregungsleitungsstörungen
• Allelic: Carpal tunnel syndrome, familial (TTR)
• Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
• Allelic: Conotruncal heart malformations, variable (NKX2-5)
• Allelic: Developmental + epileptic encephalopathy 52 (SCN1B)
• Allelic: Dystransthyretinemic hyperthyroxinemia (TTR)
• Allelic: Epilepsy, generalized, with febrile seizures plus, type 1 (SCN1B)
• Allelic: Erythrokeratodermia veriabilis et progressiva 6 (TRPM4)
• Allelic: Fabry disease (GLA)
• Allelic: Glycogen storage disease of heart, lethal congenital (PRKAG2)
• 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: Mandibuloacral dysplasia (LMNA)
• Allelic: Muscular dystrophy, congenital (LMNA)
• Allelic: Muscular dystrophy, limb-girdle, AR 25 (BVES alias POPDC1)
• Allelic: Myopathy, myofibrillar, 1 (DES)
• Allelic: Restrictive dermopathy, lethal (LMNA)
• Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
• Allelic: Tetralogy of Fallot (NKX2-5)
• Allelic: Ventricular septal defect 3 (NKX2-5)
• Amyloidosis, hereditary, transthyretin-related (TTR)
• Atrial fibrillation, familial, 10 (SCN5A)
• Atrial fibrillation, familial, 13 (SCN1B)
• Atrial septal defect 7, with/-out AV conduction defects (NKX2-5)
• Atrioventricular block [ESC guidelines] (BVES alias POPDC1)
• Atrioventricular block [ESC guidelines] (GJA5)
• Atrioventricular block [ESC guidelines] (SCN5A)
• Brugada syndrome 1 (SCN5A)
• Brugada syndrome 5 (SCN1B)
• Brugada syndrome 8 (HCN4)
• Cardiac conduction defect, nonspecific (SCN1B)
• Cardiac conduction disease with/-out dilated cardiomyopathy (TNNI3K)
• Cardiomyopathy, dilated, 1A (LMNA)
• Cardiomyopathy, dilated, 1E (SCN5A)
• Cardiomyopathy, dilated, 1I (DES)
• Cardiomyopathy, hypertrophic 6 (PRKAG2)
• Danon disease (LAMP2)
• Emery-Dreifuss muscular dystrophy 1, XL (EMD)
• Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
• Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
• Fabry disease, cardiac variant (GLA)
• Heart block, nonprogressive (SCN5A)
• Heart block, progressive, type IA (SCN5A)
• Heart conduction disease [panelapp] (CLCA2)
• Heart-hand syndrome, Slovenian type (LMNA)
• Holt-Oram syndrome (TBX5)
• Long QT syndrome 3 (SCN5A)
• Malouf syndrome (LMNA)
• Progressive familial heart block, type IB (TRPM4)
• Sick sinus syndrome 1 (SCN5A)
• Sick sinus syndrome 2 (HCN4)
• Sudden infant death syndrome, susceptibility to (SCN5A)
• Ventricular fibrillation, familial, 1 (SCN5A)
• Wolff-Parkinson-White syndrome (PRKAG2)