Isolated atrial standstill
Synonyms: Isolated atrial cardiomyopathy with heart block
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adult
- Status
- active
A rare cardiac rhythm disease characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated atrial standstill | Isolated atrial cardiomyopathy with heart block |
| fr | Syndrome de cardiomyopathie auriculaire-bloc cardiaque isolé | |
| de | Vorhofstillstand, isolierter | Isolierte atriale Kardiomyopathie mit Herzblock |
| es | Arresto auricular aislado | Miocardiopatía auricular aislada con bloqueo cardíaco |
| it | Blocco atriale | Cardiomiopatia atriale con blocco cardiaco |
| nl | Geïsoleerde atriale stilstand | Geïsoleerde atriale cardiomyopathie met hartblok |
| pt | Paragem auricular isolada | Miocardiopatia auricular com bloqueio cardíaco |
| pl | Zatrzymanie elektrycznej czynności przedsionków | Kardiomiopatia przedsionkowa z blokiem serca |
| cs | Atriální zástava | Atriální kardiomyopatie se srdeční blokádou |
| uk | Зупинка передсердь | Передсердна кардіоміопатія з серцевою блокадою |
| zh | 心房静止 | 心房心肌病伴心脏传导阻滞 |
| tr | Atriyal durma | Kalp bloğu ile seyreden atriyal kardiyomiyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 108770 | BTNT | validated | |
| OMIM | 615745 | BTNT | validated | |
| ICD-10 | I45.5 | NTBT | attributed | validated |
| ICD-11 | BC80.Y | NTBT | index | validated |
| MONDO | 0015281 | E | validated | |
| UMLS | C0541782 | E | validated | |
| MedDRA | 10087237 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:217635Familial restrictive cardiomyopathy
rare cardiac diseases; rare genetic diseases - ORPHA:101934Genetic cardiac rhythm disease
rare cardiac diseases; rare genetic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NPPA | Disease-causing germline mutation(s) in | Assessed | HGNC:7939 | ENSG00000175206 | 108780 | 1p36.22 | natriuretic peptide A | 23275345[PMID] |
| SCN5A | Disease-causing germline mutation(s) in | Assessed | HGNC:10593 | ENSG00000183873 | 600163 | 3p22.2 | sodium voltage-gated channel alpha subunit 5 | 12522116[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
32 annotations · validated 2021-07-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031595 | Abnormal P wave | |
| HP:0025478 | Atrial standstill | |
| HP:0031546 | Cardiac conduction abnormality | |
| HP:0001962 | Palpitations | |
| HP:0005155 | Ventricular escape rhythm | |
| Frequent (79-30%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0011675 | Arrhythmia | |
| HP:0002094 | Dyspnea | |
| HP:0012378 | Fatigue | |
| HP:0410174 | Increased circulating troponin T concentration | |
| HP:0030682 | Left ventricular noncompaction | |
| HP:0003560 | Muscular dystrophy | |
| HP:0030973 | Postexertional malaise | |
| HP:0012664 | Reduced left ventricular ejection fraction | |
| HP:0011712 | Right bundle branch block | |
| HP:0011704 | Sick sinus syndrome | |
| Occasional (29-5%) | ||
| HP:0002381 | Aphasia | |
| HP:0001662 | Bradycardia | |
| HP:0001638 | Cardiomyopathy | |
| HP:0001635 | Congestive heart failure | |
| HP:0001260 | Dysarthria | |
| HP:0001371 | Flexion contracture | |
| HP:0002315 | Headache | |
| HP:0002301 | Hemiplegia | |
| HP:0002140 | Ischemic stroke | |
| HP:0011707 | Mobitz I atrioventricular block | |
| HP:0002018 | Nausea | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001279 | Syncope | |
| HP:0001907 | Thromboembolism | |
| HP:0004756 | Ventricular tachycardia | |
| HP:0002321 | Vertigo | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 32755394[PMID]_29387541[PMID]_26897154[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1344
- This record as JSON: /data/d/1344.json