Long QT syndrome 10

General Information (adopted from Orphanet):

Synonyms, Signs: ATFB17
LQT10
familial atrial fibrillation, 17
Number of Symptoms 7
OrphanetNr:
OMIM Id: 611819
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:

LQT10 is a sub-type of Romano-Ward syndrome, a variant of the familial long QT syndrome. It is characterized by a mutation (L179F) in the SCN4B gene (PMID:17592081). SCN4B is also associated with familial atrial fibrillation 17 (ATFB17) (PMID:23604097) or sudden infant death (PMID:20226894). This indicates that long QT syndrome may share a common genetic origin with familial atrial fibrillation as well as sudden infant death.

Symptom Information: Sort by abundance 

1
(HPO:0001662) Bradycardia 17592081 IBIS 41 / 7739
2
(HPO:0001645) Sudden cardiac death 17592081 IBIS 84 / 7739
3
(HPO:0012266) T-wave alternans 17592081 IBIS 8 / 7739
4
(HPO:0005135) EKG: T-wave abnormalities Very frequent [IBIS] 17592081 IBIS 19 / 7739
5
(HPO:0001678) Atrioventricular block 17592081 IBIS 59 / 7739
6
(HPO:0001657) Prolonged QT interval Very frequent [IBIS] 17592081 IBIS 33 / 7739
7
(HPO:0004308) Ventricular arrhythmia 17592081 IBIS 46 / 7739

Associated genes:

SCN4B;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
SCN4B rs121434386 pathogenic RCV000002563.2

Additional Information:

Clinical Description OMIM Medeiros-Domingo et al. (2007) reported a 5-year-old Mexican mestizo girl who at 21 months of age was found to have asymptomatic bradycardia with rates less than 60 bpm. An ECG revealed profound QT prolongation with a QTc of ...
Molecular genetics OMIM In affected members of a 4-generation Mexican mestizo pedigree with long QT syndrome, Medeiros-Domingo et al. (2007) analyzed the 9 known LQTS-associated genes (see LQT1; 192500) but found no mutations. Analysis of the 4 genes encoding sodium channel ...