Atrial fibrillation, familial, 10

General Information (adopted from Orphanet):

Synonyms, Signs: ATFB10

familial atrial fibrillation, 10
Number of Symptoms 17
OrphanetNr:
OMIM Id: 614022
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
18929244 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Familial atrial fibrillation
 -Rare cardiac disease
 -Rare genetic disease

Comment:

Atrial fibrillation (AF) is the most prevalent type of cardiac arrhythmia and is commonly associated with other cardiovascular disorders, but in up to 30% of cases there is no evidence of overt heart disease. This condition is called lone or idiopathic AF. About 15% of lone AF presents as familial disorder (PMID:24333117, 23551519). ATFB10 is a sub-type of familial atrial fibrillation and is characterized by mutations in the SCN5A gene. SCN5A is also associated with familial long QT syndrome 3 (LQT3), a sub-type of the Romano-Ward syndrome (PMID:18929244).

Symptom Information: Sort by abundance 

1
(HPO:0004755) Supraventricular tachycardia 16684018 IBIS 20 / 7739
2
(HPO:0001707) Abnormality of the right ventricle 16684018 IBIS 7 / 7739
3
(HPO:0001657) Prolonged QT interval Rare [IBIS] 18929244 IBIS 33 / 7739
4
(HPO:0001692) Primary atrial arrhythmia 18929244 IBIS 16 / 7739
5
(HPO:0005180) Tricuspid regurgitation 18088563 IBIS 20 / 7739
6
(HPO:0001662) Bradycardia 16684018 IBIS 41 / 7739
7
(HPO:0006677) Prolonged QRS complex 16684018 IBIS 16 / 7739
8
(HPO:0004757) Paroxysmal atrial fibrillation 18929244 IBIS 16 / 7739
9
(HPO:0005150) Abnormal atrioventricular conduction 16684018 IBIS 16 / 7739
10
(HPO:0011687) AV nodal tachycardia 16684018 IBIS 3 / 7739
11
(HPO:0004749) Atrial flutter 16684018 IBIS 20 / 7739
12
(HPO:0006671) Paroxysmal atrial tachycardia 18929244 IBIS 4 / 7739
13
(HPO:0001711) Abnormality of the left ventricle 16684018 IBIS 22 / 7739
14
(HPO:0011701) Multifocal atrial tachycardia 16684018 IBIS 7 / 7739
15
(HPO:0001653) Mitral regurgitation 18088563 IBIS 64 / 7739
16
(HPO:0001962) Palpitations 18929244 IBIS 62 / 7739
17
(OMIM) Premature atrial contraction (PAC) 18929244 IBIS 3 / 7739

Associated genes:

SCN5A;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
SCN5A rs137854617 pathogenic RCV000022945.2
SCN5A rs137854618 pathogenic RCV000022946.4
SCN5A rs199473111 pathogenic RCV000022950.4
SCN5A rs199473112 pathogenic RCV000022948.2
SCN5A rs199473115 pathogenic RCV000022949.2
SCN5A rs199473119 likely pathogenic RCV000196670.1
SCN5A rs199473335 pathogenic RCV000022947.2
SCN5A rs199473579 pathogenic RCV000022951.2

Additional Information:

Clinical Description OMIM Laitinen-Forsblom et al. (2006) studied a large Finnish family in which 6 individuals had atrial arrhythmias and intraventricular conduction defects. Five affected family members presented with various atrial arrhythmias that developed in their second decade or later, including ...
Molecular genetics OMIM In a large Finnish family with atrial fibrillation (AF) and conduction defects, Laitinen-Forsblom et al. (2006) identified a heterozygous missense mutation (600163.0034) in the SCN5A gene that segregated with disease and was not found in more than 370 ...