Atrial fibrillation, familial, 3

General Information (adopted from Orphanet):

Synonyms, Signs: ATFB3
familial atrial fibrillation, 3
Number of Symptoms 19
OrphanetNr:
OMIM Id: 607554
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
12522251 [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:0001907) Thromboembolism 12522251 IBIS 15 / 7739
2
 (HPO:0001711) Abnormality of the left ventricle 12522251 IBIS 22 / 7739
3
 (HPO:0006677) Prolonged QRS complex 19632626 IBIS 16 / 7739
4
 (HPO:0001657) Prolonged QT interval Frequent [IBIS] 56% (n=16) 12522251 IBIS 33 / 7739
5
 (HPO:0012232) Shortened QT interval 16109388 IBIS 7 / 7739
6
 (HPO:0012664) Reduced ejection fraction 12522251 IBIS 32 / 7739
7
 (HPO:0011675) Arrhythmia 12522251 IBIS 226 / 7739
8
 (HPO:0001662) Bradycardia 23350853 IBIS 41 / 7739
9
 (HPO:0001962) Palpitations 12522251 IBIS 62 / 7739
10
 (HPO:0005110) Atrial fibrillation 12522251 IBIS 71 / 7739
11
 (HPO:0004757) Paroxysmal atrial fibrillation 19632626 IBIS 16 / 7739
12
 (HPO:0004754) Permanent atrial fibrillation Very frequent [IBIS] 100% (n=16) 12522251 IBIS 8 / 7739
13
 (HPO:0001649) Tachycardia 9538316 IBIS 53 / 7739
14
 (HPO:0005147) Bidirectional ventricular ectopy 23350853 IBIS 2 / 7739
15
 (HPO:0001663) Ventricular fibrillation 23350853 IBIS 35 / 7739
16
 (HPO:0001695) Cardiac arrest 23350853 IBIS 87 / 7739
17
 (HPO:0001279) Syncope Occasional [IBIS] 12% (n=16) 12522251 IBIS 94 / 7739
18
 (HPO:0012378) Fatigue 12522251 IBIS 50 / 7739
19
 (HPO:0001297) Stroke 12522251 IBIS 44 / 7739

Associated genes:

KCNQ1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
KCNQ1 rs120074192 pathogenic RCV000003293.3
KCNQ1 rs199472705 pathogenic RCV000115006.2
KCNQ1 rs199472708 pathogenic RCV000115009.2
KCNQ1 rs199472709 pathogenic RCV000115007.2
KCNQ1 rs397515877 pathogenic RCV000114749.3

Additional Information:

Clinical Description OMIM Chen et al. (2003) studied a 4-generation family with autosomal dominant hereditary atrial fibrillation from Shandong Province, China. The proband was identified in 1970 at the age of 22 years. Atrial fibrillation persisted in affected individuals once it ...
Molecular genetics OMIM In all affected members of a Chinese family segregating autosomal dominant atrial fibrillation, Chen et al. (2003) identified a ser140-to-gly mutation (S140G; 607542.0032) in the KCNQ1 gene.