Atrial standstill

General Information (adopted from Orphanet):

Synonyms, Signs: Atrial cardiomyopathy with heart block
Cardiomyopathy, familial, with conduction disturbance
Number of Symptoms 19
OrphanetNr: 1344
OMIM Id: 108770
ICD-10: I45.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Multifactorial
Monogenic
Autosomal dominant
Sporadic
23275345 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Familial restrictive cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease
Genetic cardiac rhythm disease
 -Rare cardiac disease
 -Rare genetic disease

Comment:

Atrial standstill is a rare arrhythmogenic condition, and it's diagnosis relies on ECG demonstration of bradycardia, the absence of P waves, and junctional narrow or wide complex escape rhythm. Intracavitary recordings also fails to demonstrate atrial depolarization. Typically, the atria are scarred and have little or no working myocardia. A few autopsy reports have described the pathologic changes in atrial standstill, showing fibroelastosis and fatty infiltration in atria. Atrial standstill may be secondary to several clinical disorders, however, she had no evidence of muscular disease, ischemic heart disease, drug intoxication, and myocarditis (PMID:19259364, PMID:5562558).

Symptom Information: Sort by abundance 

1
 (HPO:0001645) Sudden cardiac death 16176547 IBIS 84 / 7739
2
 (HPO:0006699) Premature atrial contractions 16176547 IBIS 2 / 7739
3
 (HPO:0003115) Abnormal EKG Frequent [IBIS] 54% (n=11) 16176547 IBIS 44 / 7739
4
 (HPO:0005120) Abnormality of cardiac atrium 16176547 IBIS 5 / 7739
5
 (HPO:0001962) Palpitations 23275345 IBIS 62 / 7739
6
 (HPO:0001653) Mitral regurgitation 15568605 IBIS 64 / 7739
7
 (HPO:0001662) Bradycardia 16176547 IBIS 41 / 7739
8
 (HPO:0001635) Congestive heart failure 5347950 IBIS 232 / 7739
9
 (HPO:0011705) First degree atrioventricular block 4636548 IBIS 13 / 7739
10
 (HPO:0001279) Syncope 16176547 IBIS 94 / 7739
11
 (HPO:0001695) Cardiac arrest 19259364 IBIS 87 / 7739
12
 (HPO:0001706) Endocardial fibroelastosis 19259364 IBIS 20 / 7739
13
 (HPO:0200127) Atrial cardiomyopathy 6225642 IBIS 2 / 7739
14
 (HPO:0002094) Dyspnea 23275345 IBIS 132 / 7739
15
 (OMIM) Absent P waves Frequent [IBIS] 54% (n=11) 16176547 IBIS 3 / 7739
16
 (MedDRA:10067282) Right atrial dilatation 6225642 IBIS 8 / 7739
17
 (OMIM) Atrial standstill 6225642 IBIS 6 / 7739
18
 (OMIM) Atrial inexcitability 6225642 IBIS 3 / 7739
19
 (MedDRA:10067286) Left atrial dilatation 6225642 IBIS 10 / 7739

Associated genes:

GJA5; SCN5A; NPPA;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
SCN5A rs137854618 pathogenic RCV000114992.2
SCN5A rs199473070 pathogenic RCV000114993.2

Additional Information:

Clinical Description OMIM In a discussion of atrial standstill, Harrison and Derrick (1969) described Latin-American sibs with possible cardiac amyloidosis. Both parents and sister had died suddenly. Allensworth et al. (1969) described 3 sibs, aged 38, 34 and 33, with bradycardia, ...
Molecular genetics OMIM Groenewegen et al. (2003) reported a family in which 1 deceased and 3 living members had atrial standstill. They identified an asp1275-to-asn (D1275N; 600163.0034) in the SCN5A gene in all 3 affected living members and in 5 unaffected ...