Inherited arrhythmogenic cardiomyopathy
Synonyms: Arrhythmogenic cardiomyopathy · ACM
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- active
A heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Inherited arrhythmogenic cardiomyopathy | Arrhythmogenic cardiomyopathy · ACM |
| fr | Cardiomyopathie arythmogène héréditaire | Cardiomyopathie arythmogène |
| de | Hereditäre arrhythmogene Kardiomyopathie | ACM · Arrhythmogene Kardiomyopathie |
| es | Miocardiopatía arritmogénica hereditaria | Cardiomiopatía arritmogénica hereditaria · MCA |
| it | Cardiomiopatia aritmogena ereditaria | Cardiomiopatia aritmogena del ventricolo destro |
| nl | Erfelijke aritmogene cardiomyopathie | ACM · Aritmogene cardiomyopathie |
| pt | Cardiomiopatia arritmogénica hereditária | ACM · Cardiomiopatia arritmogénica |
| pl | Arytmogenna kardiomiopatia prawej komory | ARVC · ARVD · Arytmogenna dysplazja prawej komory · Wrodzona kardiomiopatia arytmogenna |
| cs | Arytmogenní kardiomyopatie pravé komory | ARVC · ARVD · Arytmogenní dysplázie pravé komory |
| uk | Спадкова аритмогенна кардіоміопатія | Аритмогенна кардіоміопатія правого шлуночка |
| zh | 心律失常性右室发育不良 | 致心律失常性右室发育不良 |
| tr | Aritmojenik sağ ventriküler kardiyomiyopati | ARVC · ARVD · Aritmojenik sağ ventrikül displazisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | BC43.6 | E | specific | validated |
| MONDO | 0016587 | E | validated | |
| MONDO | 16587 | E | validated | |
| MeSH | D019571 | E | validated | |
| UMLS | C0349788 | E | validated | |
| MedDRA | 10058093 | 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 (3):
- ORPHA:167848Rare cardiomyopathy
rare cardiac diseases - ORPHA:506225Rare disorder potentially indicated for heart transplant
rare transplant-related disorders - ORPHA:98054Rare genetic cardiac disease
rare genetic diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 43.5 / 100 000 | Italy | Value and class | Validated | 16585401[PMID]_Pr Cristina BASSO[EXPERT]_Dr Kalliopi PILICHOU[EXPERT]_Pr Domenico CORRADO[EXPERT]_Pr Gaetano THIENE[EXPERT] |
| Point prevalence | 1-5 / 10 000 | 20 / 100 000 | Worldwide | Value and class | Validated | 23736219[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/247
- This record as JSON: /data/d/247.json