ORPHA:3286
Catecholaminergic polymorphic ventricular tachycardia
Synonyms: Bidirectional ventricular tachycardia induced by catecholamine · CPVT · Malignant paroxysmal ventricular tachycardia · Polymorphic ventricular tachycardia induced by catecholamines
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare severe genetic arrhythmogenic disorder of the structurally normal heart characterized by catecholamine-induced ventricular tachycardia (VT) manifesting as syncope and sudden death in young individuals.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Catecholaminergic polymorphic ventricular tachycardia | Bidirectional ventricular tachycardia induced by catecholamine · CPVT · Malignant paroxysmal ventricular tachycardia · Polymorphic ventricular tachycardia induced by catecholamines |
| fr | Tachycardie ventriculaire polymorphe catécholaminergique | TVPC · Tachycardie ventriculaire bidirectionnelle induite par les catécholamines · Tachycardie ventriculaire paroxystique maligne · Tachycardie ventriculaire polymorphe induite par les catécholamines |
| de | Tachykardie, katecholaminerge polymorphe ventrikuläre | Bidirektionale katecholaminerge Tachykardie · CPVT · Polymorphe ventrikuläre Tachykardie induziert durch Katecholamine · Tachykardie, maligne paroxysmale ventrikuläre |
| es | Taquicardia ventricular polimórfica catecolaminérgica | CPVT · Taquicardia ventricular bidireccional inducida por catecolaminas · Taquicardia ventricular paroxística maligna · Taquicardia ventricular polimórfica inducida por catecolaminas |
| it | Tachicardia ventricolare polimorfa catecolaminergica | CPVT · Tachicardia ventricolare bidirezionale indotta dalle catecolamine · Tachicardia ventricolare parossistica maligna · Tachicardia ventricolare polimorfa indotta dalle catecolamine |
| nl | Catecholaminerge polymorfe ventriculaire tachycardie | Bidirectionele ventrikeltachycardie geïnduceerd door catecholamine · CPVT · Maligne paroxysmale ventriculaire tachycardie · Polymorfe ventrikeltachycardie geïnduceerd door catecholamines |
| pt | Taquicardia ventricular polimórfica catecolaminérgica | Taquicardia ventricular paroxistica maligna · Taquicardia ventricular polimórfica induzida por catecolaminas |
| pl | Polimorficzny katecholaminergiczny częstoskurcz komorowy | Częstoskurcz dwukierunkowy wywołany katecholaminami · Podwójny częstoskurcz wywołany katecholaminami · Złośliwy napadowy częstoskurcz komorowy |
| cs | Katecholaminergní polymorfní komorová tachykardie | CPVT · Dvojitá tachykardie indukovaná katecholaminy · Maligní paroxysmální ventrikulární tachykardie · Bidirekční komorová tachykardie indukovaná katecholaminy · Multifokální ventrikulární předčasný tlukot srdce |
| uk | Катехоламінергічна поліморфна шлуночкова тахікардія | Двонаправлена шлуночкова тахікардія, викликана катехоламіном · CPVT · Злоякісна пароксизмальна шлуночкова тахікардія · Поліморфна шлуночкова тахікардія, викликана катехоламінами |
| zh | 儿茶酚胺敏感性多形性室性心动过速 | 儿茶酚胺诱发双向性心动过速 |
| tr | Katekolaminerjik polimorfik ventriküler taşikardi | CPVT · Multifokal ventriküler erken atımlar · Katekolaminlerin neden olduğu çift taşikardi · Habis paroksismal ventriküler taşikardi · Katekolamin ile indüklenen çift yönlü taşikardi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604772 | E | validated | |
| OMIM | 611938 | BTNT | validated | |
| OMIM | 614021 | BTNT | validated | |
| OMIM | 614916 | BTNT | validated | |
| OMIM | 615441 | BTNT | validated | |
| ICD-10 | I47.2 | NTBT | attributed | validated |
| ICD-11 | BC65.5 | E | specific | validated |
| MONDO | 0017990 | E | validated | |
| MeSH | C536334 | E | validated | |
| UMLS | C5574922 | E | validated | |
| GARD | 4421 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:101934Genetic cardiac rhythm disease
rare cardiac diseases; rare genetic diseases
Children (6):
- ORPHA:730631CASQ2-related catecholaminergic polymorphic ventricular tachycardia
- ORPHA:730657Calmodulin-related catecholaminergic polymorphic ventricular tachycardia
- ORPHA:730728Catecholaminergic polymorphic ventricular tachycardia without known causative genetic defect
- ORPHA:730618RYR2-related catecholaminergic polymorphic ventricular tachycardia
- ORPHA:730644TECRL-related catecholaminergic polymorphic ventricular tachycardia
- ORPHA:730682TRDN-related catecholaminergic polymorphic ventricular tachycardia
4
Genes
0 direct · 7 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 10 / 100 000 | Europe | Value and class | Validated | 23916535[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
10 annotations · validated 2024-03-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004756 | Ventricular tachycardia | |
| Frequent (79-30%) | ||
| HP:0005110 | Atrial fibrillation | |
| HP:0001695 | Cardiac arrest | |
| HP:0001962 | Palpitations | |
| HP:0031677 | Polymorphic ventricular tachycardia | |
| HP:0004755 | Supraventricular tachycardia | |
| HP:0002321 | Vertigo | |
| Occasional (29-5%) | ||
| HP:0001645 | Sudden cardiac death | |
| HP:0001279 | Syncope | |
| HP:0001663 | Ventricular fibrillation | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 20301466[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3286
- This record as JSON: /data/d/3286.json