Klinische FragestellungSinusknoten-Dysfunktion, familiäre; Differentialdiagnose

NGS +

[Sanger]

Herzrhythmusstörung, meist bei Älteren, Sinusbradykardie, Vorhofflimmern, Vorhoftachykardie-Sinus- oder Sinus-Atrium-Block; Symptome wie Synkope, Schwindel, Herzklopfen, Müdigkeit, Herzinsuffizienz; Fehlfunktion des Herzleitungssystems, wahrscheinlich als Folge einer Fibrose des Knotengewebes oder als Folge von Herzerkrankungen

• Alias: Familial sick sinus syndrome
• Allelic: Atrial fibrillation, familial, 10 (SCN5A)
• Allelic: Atrial septal defect 3 (MYH6)
• Allelic: Atrial standstill, digenic (GJA5/SCN5A)
• Allelic: Brugada syndrome 1 (SCN5A)
• Allelic: Brugada syndrome 3 (CACNA1C)
• Allelic: Brugada syndrome 8 (HCN4)
• Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
• Allelic: Heart-hand syndrome, Slovenian type (LMNA)
• Allelic: Hutchinson-Gilford progeria (LMNA)
• Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
• Allelic: Long QT syndrome 3 (SCN5A)
• Allelic: Long QT syndrome 8 (CACNA1C)
• Allelic: Malouf syndrome (LMNA)
• Allelic: Mandibuloacral dysplasia (LMNA)
• Allelic: Restrictive dermopathy, lethal (LMNA)
• Allelic: Sudden infant death syndrome, susceptibility to (SCN5A)
• Atrial fibrillation, familial, 11 (GJA5)
• Cardiomyopathy, dilated, 1A (LMNA)
• Cardiomyopathy, dilated, 1E (SCN5A)
• Cardiomyopathy, dilated, 1EE (MYH6)
• Cardiomyopathy, dilated, 1G (TTN)
• Cardiomyopathy, dilated, 1S (MYH7)
• Cardiomyopathy, dilated, 1Z (TNNC1)
• Cardiomyopathy, familial hypertrophic, 9 (TTN)
• Cardiomyopathy, hypertrophic, 1 (MYH7)
• Cardiomyopathy, hypertrophic, 13 (TNNC1)
• Cardiomyopathy, hypertrophic, 14 (MYH6)
• Congenital myopathy 7A, myosin storage, AD (MYH7)
• Congenital myopathy 7B, myosin storage, AR (MYH7)
• Emery-Dreifuss muscular dystrophy 1, XL (EMD)
• Emery-Dreifuss muscular dystrophy 2 + 3, AD + AR (LMNA)
• Heart block, nonprogressive (SCN5A)
• Heart block, progressive, type IA (SCN5A)
• Hyperaldosteronism, familial, type III (SLC8A1)
• Intellectual developmental disorder + cardiac arrhythmia (GNB5)
• Laing distal myopathy (MYH7)
• Language delay and ADHD/cognitive impairment +/- cardiac arrhythmia (GNB5)
• Left ventricular noncompaction 5 (MYH7)
• Long QT syndrome 13 (SLC8A1)
• Muscular dystrophy, congenital (LMNA)
• Muscular dystrophy, limb-girdle, AR 10 (TTN)
• Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
• Salih myopathy (TTN)
• Sick sinus syndrome 1 (SCN5A)
• Sick sinus syndrome 2 (HCN4)
• Tibial muscular dystrophy, tardive (TTN)
• Timothy syndrome (CACNA1C)
• Ventricular fibrillation, familial, 1 (SCN5A)