Atrial fibrillation, familial, 7

General Information (adopted from Orphanet):

Synonyms, Signs: ATFB7
familial atrial fibrillation, 7
Number of Symptoms 9
OrphanetNr:
OMIM Id: 612240
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
19666641 [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)

Symptom Information: Sort by abundance 

1
(HPO:0004754) Permanent atrial fibrillation 22818067 IBIS 8 / 7739
2
(HPO:0004757) Paroxysmal atrial fibrillation 22818067 IBIS 16 / 7739
3
(HPO:0001688) Sinus bradycardia 22818067 IBIS 18 / 7739
4
(HPO:0012248) Prolonged PR interval 23264583] IBIS 6 / 7739
5
(HPO:0001649) Tachycardia 22818067 IBIS 53 / 7739
6
(HPO:0001962) Palpitations 20638934 IBIS 62 / 7739
7
(HPO:0001657) Prolonged QT interval 23264583 IBIS 33 / 7739
8
(HPO:0006682) Ventricular extrasystoles 23264583 IBIS 25 / 7739
9
(HPO:0011712) Right bundle branch block 23264583 IBIS 34 / 7739

Associated genes:

KCNA5;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
KCNA5 rs121908590 pathogenic RCV000014411.26
KCNA5 rs121908591 pathogenic RCV000014412.18
KCNA5 rs121908592 pathogenic RCV000014413.24
KCNA5 rs121908593 pathogenic RCV000014414.26
KCNA5 rs199794307 pathogenic RCV000114990.2
KCNA5 rs587777336 pathogenic RCV000114991.2

Additional Information:

Clinical Description OMIM Olson et al. (2006) reported a 55-year-old female proband who had recurrent palpitations in childhood and was diagnosed with lone atrial fibrillation at age 35. Atrial fibrillation worsened over time, increasing to multiple daily occurrences. Rhythm control was ...
Molecular genetics OMIM Using a candidate gene approach, Olson et al. (2006) screened 154 unrelated individuals with isolated atrial fibrillation for mutations in the KCNA5 gene. In a female proband and 2 sibs with isolated atrial fibrillation, the authors identified heterozygosity ...