Congenital short QT syndrome
Synonyms: Congenital SQTS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare, genetic cardiac rhythm disease characterized by a short QTc interval on the surface electrocardiogram (ECG) with a high risk of syncope or sudden death due to malignant ventricular arrhythmia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital short QT syndrome | Congenital SQTS |
| fr | Syndrome du QT court congénital | SQTS congénital |
| de | Short-QT-Syndrom, kongenitales | SQTS |
| es | Síndrome de QT corto congénito | SQTC congénito |
| it | Sindrome familiare del QT corto | SQTS |
| nl | Congenitaal korte-QT-syndroom | Congenitaal SQTS |
| pt | Síndrome QT curto congénito | SQTS congénito |
| pl | Rodzinny zespół skróconego odstępu QT | SQTS |
| cs | Familiární syndrom krátkého QT | SQTS |
| uk | Сімейний синдром укороченого інтервалу QT | SQTS |
| zh | 家族性短QT综合征 | SQTS |
| tr | ailesel kısa QT sendromu | SQTS |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609620 | E | validated | |
| OMIM | 609621 | BTNT | validated | |
| OMIM | 609622 | BTNT | validated | |
| OMIM | 620231 | BTNT | validated | |
| ICD-10 | I49.8 | NTBT | attributed | validated |
| ICD-11 | BC65.2 | E | specific | validated |
| UMLS | C2348199 | 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 (1):
- ORPHA:101934Genetic cardiac rhythm disease
rare cardiac diseases; rare genetic diseases
No children.
Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CACNA2D1 | Candidate gene tested in | Not yet assessed | HGNC:1399 | ENSG00000153956 | 114204 | 7q21.11 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | 21383000[PMID] |
| KCNH2 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:6251 | ENSG00000055118 | 152427 | 7q36.1 | potassium voltage-gated channel subfamily H member 2 | 15828882[PMID] |
| KCNJ2 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:6263 | ENSG00000123700 | 600681 | 17q24.3 | potassium inwardly rectifying channel subfamily J member 2 | 15761194[PMID] |
| KCNQ1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:6294 | ENSG00000053918 | 607542 | 11p15.5-p15.4 | potassium voltage-gated channel subfamily Q member 1 | 15159330[PMID]_26346102[PMID] |
| SLC4A3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11029 | ENSG00000114923 | 106195 | 2q35 | solute carrier family 4 member 3 | 29167417[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 23916535[PMID]_[EXPERT] |
| Cases/families | 80 families | Worldwide | Family(ies) | Validated | [EXPERT] |
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
9 annotations · validated 2017-05-31| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0012232 | Shortened QT interval | |
| Very frequent (99-80%) | ||
| HP:0001662 | Bradycardia | |
| Frequent (79-30%) | ||
| HP:0005110 | Atrial fibrillation | |
| HP:0001962 | Palpitations | |
| Occasional (29-5%) | ||
| HP:0001678 | Atrioventricular block | |
| HP:0001645 | Sudden cardiac death | |
| HP:0001279 | Syncope | |
| HP:0004308 | Ventricular arrhythmia | |
| HP:0001663 | Ventricular fibrillation | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 15159330[PMID]_14676148[PMID]_15890322[PMID]_24818999[PMID]_14676148[PMID]_12925462[PMID]_11173780[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/51083
- This record as JSON: /data/d/51083.json