Klinische FragestellungJervell- und Lange-Nielsen-Syndrom, Differentialdiagnose

NGS +

Variante des familiären langen QT-Syndroms, charakterisiert durch kongenitalen beidseitigen hochgradigen sensorineuralen Hörverlust, langes QT-Intervall im Elektrokardiogramm + ventrikuläre Tachyarrhythmien

• Allelic: Atrial fibrillation, familial, (KCNQ1)
• Allelic: Atrial fibrillation, familial, 10 (SCN5A)
• Allelic: Atrial fibrillation, familial, 4 (KCNE2)
• Allelic: Atrial fibrillation, familial, 9 (KCNJ2)
• Allelic: Brugada syndrome 1 (SCN5A)
• Allelic: Brugada syndrome 3 (CACNA1C)
• Allelic: Cardiomyopathy, dilated, 1E (SCN5A)
• Allelic: Heart block, nonprogressive (SCN5A)
• Allelic: Heart block, progressive, type IA (SCN5A)
• Allelic: Long QT syndrome 1 (KCNQ1)
• Allelic: Long QT syndrome 1, acquired, susceptibility to (KCNQ1)
• Allelic: Long QT syndrome 2 (KCNH2)
• Allelic: Long QT syndrome 2, acquired, susceptibility to (KCNH2)
• Allelic: Long QT syndrome 3 (SCN5A)
• Allelic: Long QT syndrome 5 (KCNE1)
• Allelic: Long QT syndrome 6 (KCNE2)
• Allelic: Long QT syndrome 8 (CACNA1C)
• Allelic: Short QT syndrome 1 (KCNH2)
• Allelic: Short QT syndrome 2 (KCNQ1)
• Allelic: Short QT syndrome 3 (KCNJ2)
• Allelic: Sick sinus syndrome 1 (SCN5A)
• Allelic: Sudden infant death syndrome, susceptibility to (SCN5A)
• Allelic: Ventricular fibrillation, familial, 1 (SCN5A)
• Andersen[-Tawil] syndrome, periodic paralysis, K-sensitive cardiorhythmic type (KCNJ2)
• Deafness, congenital, functional heart disease
• Jervell + Lange-Nielsen syndrome (KCNQ1)
• Jervell + Lange-Nielsen syndrome 2 (KCNE1)
• Timothy syndrome (CACNA1C)