Cardiac arrhythmia, ankyrin-b-related

Preferred Label : Cardiac arrhythmia, ankyrin-b-related;

CISMeF acronym : LQT4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ankyrin-b syndrome;

Included titles and symbols : Long qt syndrome 4; LQT4;

Description : Loss-of-function mutations in ANK2 can result in a broad spectrum of clinical cardiac phenotypes. Carriers of some mutations (e.g., E1425G, 106410.0001) display QT interval prolongation, stress- and/or exercise-induced polymorphic ventricular arrhythmia, syncope, and sudden cardiac death. Patients with other variants show clinical phenotypes, sometimes mild, extending beyond LQTS, leading to the label 'ankyrin-B syndrome.' These phenotypes include bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia (Mohler et al., 2007).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ankyrin 2 gene (ANK2, 106410.0001);

Prefixed ID : #600919;

Details

Origin ID

600919;

UMLS CUI

C1970119;

Automatic exact mappings (from CISMeF team)
- ANK2 wt Allele [NCIt concept]
- ankyrin-B-related cardiac arrhythmia [DO Concept]
- long QT syndrome 4 [DO Concept]
- long qt syndrome 4 [MeSH concept]
- long qt syndrome 4 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Cardiac arrhythmia ankyrin-B related (disorder) [SNOMED CT concept]
- cardiac arrhythmia, Ankyrin-B-Related [MeSH concept]
- cardiac arrhythmia, Ankyrin-B-Related [MeSH Supplementary Concept]
DO Cross reference
- ankyrin-B-related cardiac arrhythmia [DO Concept]
Genes related to phenotype
- Ankyrin 2 [OMIM gene]
HPO term(s)
- Atrial fibrillation [HPO term]
- Autosomal dominant inheritance [HPO term]
- Heterogeneous [HPO term]
- Prolonged QT interval [HPO term]
- Sinus bradycardia [HPO term]
- Sudden cardiac death [HPO term]
- Syncope [HPO term]
ORDO concept(s)
- Familial long QT syndrome [ORDO Disease]
- Romano-Ward syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cardiac arrhythmia ankyrin-B related (disorder) [SNOMED CT concept]
- cardiac arrhythmia, Ankyrin-B-Related [MeSH Supplementary Concept]
- cardiac arrhythmia, Ankyrin-B-Related [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients