Long QT syndrome 3

General Information (adopted from Orphanet):

Synonyms, Signs: LQT3/6, DIGENIC, INCLUDED
LONG QT SYNDROME 2/3, DIGENIC, INCLUDED
LONG QT SYNDROME 3/6, DIGENIC, INCLUDED
LQT2/3, DIGENIC, INCLUDED
LQT3 LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED
LQT3
Number of Symptoms 13
OrphanetNr:
OMIM Id: 603830
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
20301308 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Romano-Ward syndrome
 -Rare cardiac disease
 -Rare genetic disease

Comment:

LQT3 is a sub-type of Romano-Ward syndrome, a variant of familial long QT syndrome and is associated with 2:1 atrioventricular block. Symptoms are most frequently observed during rest or at night. Typically, a late-appearing T wave is observed. It is characterized by mutations in the SCN5A gene (PMID:12574983; PMID:25274057). SCN5A is also associated with familial atrial fibrillation, 10 (ATFB10).

Symptom Information: Sort by abundance 

1
(HPO:0005135) EKG: T-wave abnormalities Very frequent [IBIS] 20301308 IBIS 19 / 7739
2
(HPO:0012266) T-wave alternans 25274057 IBIS 8 / 7739
3
(HPO:0001657) Prolonged QT interval Very frequent [IBIS] 25274057 IBIS 33 / 7739
4
(HPO:0001692) Primary atrial arrhythmia Frequent [IBIS] 33% (n=21) 19017345 IBIS 16 / 7739
5
(HPO:0004308) Ventricular arrhythmia 1884444 IBIS 46 / 7739
6
(HPO:0001664) Torsade de pointes Frequent [IBIS] 25274057 IBIS 15 / 7739
7
(HPO:0001663) Ventricular fibrillation 25274057 IBIS 35 / 7739
8
(HPO:0001678) Atrioventricular block Frequent [IBIS] 12574983 IBIS 59 / 7739
9
(HPO:0001695) Cardiac arrest 25274057 IBIS 87 / 7739
10
(HPO:0001645) Sudden cardiac death 25274057 IBIS 84 / 7739
11
(HPO:0001279) Syncope Very frequent [IBIS] 25274057 IBIS 94 / 7739
12
(HPO:0001250) Seizures 25274057 IBIS 1245 / 7739
13
(HPO:0011097) Epileptic spasms 25274057 IBIS 45 / 7739

Associated genes:

SCN5A;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
SCN5A rs137854600 pathogenic RCV000009970.4
SCN5A rs137854601 pathogenic RCV000009972.2
SCN5A rs137854605 pathogenic RCV000009982.2
SCN5A rs137854609 pathogenic RCV000009986.2
SCN5A rs137854610 pathogenic RCV000009987.4
SCN5A rs137854614 pathogenic RCV000009969.2
SCN5A rs28937316 pathogenic RCV000009963.4
SCN5A rs28937317 pathogenic RCV000009964.2
SCN5A rs397514251 pathogenic RCV000009962.3
SCN5A rs397514449 pathogenic RCV000009979.4

Additional Information:

Description: (OMIM) Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncopes, seizure, or sudden death (Jongbloed et al., 1999).
Clinical Description OMIM Wang et al. (1995) cited preliminary data suggesting that in chromosome 3-linked LQT the onset of the T wave is later and duration of the QT interval longer than in other forms. These data suggested to the authors ...
Genotype-Phenotype Correlations OMIM In a large collaborative study, Zareba et al. (1998) demonstrated that the genotype of the long QT syndrome influences the clinical course. The risk of cardiac events (syncope, aborted cardiac arrest, or sudden death) was significantly higher among ...
Molecular genetics OMIM The voltage-gated cardiac sodium channel SCN5A is responsible for the initial upstroke of the action potential in the electrocardiogram. George et al. (1995) mapped SCN5A to 3p21 by fluorescence in situ hybridization, thus making it an important candidate ...