IllnessLong-QT syndrome, differential diagnosis [EMQN 2023]

NGS +

LQTS is genetically and clinically heterogeneous. Genetic testing is of great importance for case management, as genotype-specific therapies are available and may result in different types of advice for everyday behaviour. Special forms are the autosomal recessive inherited Jervell-Lange-Nielsen syndrome (LQT with bilateral hearing loss) and the multisystem diseases Andersen-Tawil syndrome and Timothy syndrome. Mutations in the genes KCNH2, KCNQ1 and SCN5A are responsible for about 70% of cases, the remaining genes of the panel for about 10%. An inconspicuous genetic finding therefore does not mean that the suspected clinical diagnosis is excluded.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1129/

• Alias: Congenital long QT syndrome, LQTS
• Allelic: Atrial fibrillation, familial, 10 (SCN5A)
• Allelic: Atrial fibrillation, familial, 17 (SCN4B)
• Allelic: Atrial fibrillation, familial, 3 (KCNQ1)
• Allelic: Atrial fibrillation, familial, 4 (KCNE2)
• Allelic: Atrial fibrillation, familial, 9 (KCNJ2)
• Allelic: Brugada syndrome 1 (SCN5A)
• Allelic: Brugada syndrome 3 (CACNA1C)
• Allelic: Cardiac arrhythmia, ankyrin-B-related (ANK2)
• Allelic: Cardiomyopathy, dilated, 1E (SCN5A)
• Allelic: Cardiomyopathy, familial hypertrophic (CAV3)
• Allelic: Creatine phosphokinase, elevated serum (CAV3)
• Allelic: Heart block, progressive, type IA (SCN5A)
• Allelic: Hyperaldosteronism, familial, type III (KCNJ5)
• Allelic: Jervell and Lange-Nielsen syndrome (KCNQ1)
• Allelic: Jervell and Lange-Nielsen syndrome 2 (KCNE1)
• Allelic: Myopathy, distal, Tateyama type (CAV3)
• Allelic: Rippling muscle disease 2 (CAV3)
• 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: Timothy syndrome (CACNA1C)
• Allelic: Ventricular fibrillation, familial, 1 (SCN5A(
• Allelic: Ventricular tachycardia, catecholaminergic polymorphic 6 (CALM3)
• Allelic: Ventricular tachycardia, catecholaminergic polymorphic, 4 (CALM1)
• Heart block, nonprogressive (SCN5A)
• Long QT syndrome 1 (KCNQ1)
• Long QT syndrome 1, acquired, susceptibility to (KCNQ1)
• Long QT syndrome 10 (SCN4B)
• Long QT syndrome 11 (AKAP9)
• Long QT syndrome 12 (SNTA1)
• Long QT syndrome 13 (KCNJ5)
• Long QT syndrome 14 (CALM1)
• Long QT syndrome 15 (CALM2)
• Long QT syndrome 16 (CALM3)
• Long QT syndrome 2 (KCNH2)
• Long QT syndrome 2, acquired, susceptibility to (KCNH2)
• Long QT syndrome 3 (SCN5A)
• Long QT syndrome 4 (ANK2)
• Long QT syndrome 5 (KCNE1)
• Long QT syndrome 6 (KCNE2)
• Long QT syndrome 7; Andersen syndrome (KCNJ2)
• Long QT syndrome 8 (CACNA1C)
• Long QT syndrome 9 (CAV3)
• Ventricular tachycardia, catecholaminergic polymorphic, 3 (TECRL)
• Ventricular tachycardia, catecholaminergic polymorphic, 5, with/-out muscle weakness (TRDN)