Arrhythmogenic right ventricular dysplasia, familial, 1

Preferred Label : Arrhythmogenic right ventricular dysplasia, familial, 1;

Symbol : ARVD1;

CISMeF acronym : ARVC1; ARVD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Arrhythmogenic right ventricular cardiomyopathy 1; ARVC1;

Included titles and symbols : Uhl anomaly; Cardiomyopathy, right ventricular dilated;

Description : Arrhythmogenic right ventricular dysplasia (ARVD) is a clinical and pathologic entity for which the diagnosis rests on electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. It is inherited in an autosomal dominant manner with reduced penetrance and is one of the major genetic causes of juvenile sudden death. When the dysplasia is extensive, it may represent the Uhl anomaly ('parchment right ventricle'). The presenting finding is usually recurrent, sustained ventricular tachycardia with left bundle branch block configuration. Basso et al. (2009) provided a detailed review of ARVD, including diagnosis, pathogenesis, treatment options, and genetics. - Genetic Heterogeneity of Familial Arrhythmogenic Right Ventricular Dysplasia Other forms of ARVD include ARVD2 (600996), caused by mutation in the RYR2 gene (180902) on chromosome 1q42-q43; ARVD3 (602086), on chromosome 14q12-q22; ARVD4 (602087), on chromosome 2q32.1-q32.3; ARVD5 (604400), caused by mutation in the TMEM43 gene (612048) on chromosome 3p23; ARVD6 (604401), on chromosome 10p14-p12; ARVD8 (607450), caused by mutation in the DSP gene (125647) on chromosome 6p24; ARVD9 (609040), caused by mutation in the PKP2 gene (602861) on chromosome 12p11; ARVD10 (610193), caused by mutation in the DSG2 (125671) on chromosome 18q12.1-q12;;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transforming growth factor, beta-3 gene (TGFB3, 190230.0001);

Prefixed ID : #107970;

Details

Origin ID

107970;

UMLS CUI

C1862511;

Automatic exact mappings (from CISMeF team)
- Familial isolated arrhythmogenic right ventricular dysplasia [ORDO Disease]
- Parchment right ventricle [ICD-11 More detail]
- TGFB3 wt Allele [NCIt concept]
- Transforming Growth Factor Beta 3 Measurement [NCIt concept]
- Uhl anomaly [ORDO Disease]
- Uhl anomaly [MeSH concept]
- Uhl's anomaly [MedDRA Preferred Term]
- Uhl's anomaly [HPO term]
- Uhl's disease (disorder) [SNOMED CT concept]
- cardiomyopathy, right ventricular dilated [MeSH concept]
- cardiomyopathy, right ventricular dilated [MeSH Supplementary Concept]
- uhl anomaly [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Arrhythmogenic right ventricular cardiomyopathy [ORDO Disease]
Currated CISMeF NLP mapping
- arrhythmogenic right ventricular dysplasia 1 [DO Concept]
- arrhythmogenic right ventricular dysplasia, familial, 1 [MeSH concept]
- arrhythmogenic right ventricular dysplasia, familial, 1 [MeSH Supplementary Concept]
DO Cross reference
- arrhythmogenic right ventricular dysplasia 1 [DO Concept]
Genes related to phenotype
- Transforming growth factor, beta-3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Heterogeneous [HPO term]
- Premature sudden cardiac death [HPO term]
- Right ventricular cardiomyopathy [HPO term]
- Sudden cardiac death [HPO term]
- Ventricular arrhythmia [HPO term]
ORDO concept(s)
- Familial isolated arrhythmogenic right ventricular dysplasia [ORDO Disease]
- Familial isolated arrhythmogenic ventricular dysplasia, biventricular form [ORDO Disease]
- Familial isolated arrhythmogenic ventricular dysplasia, left dominant form [ORDO Disease]
- Familial isolated arrhythmogenic ventricular dysplasia, right dominant form [ORDO Disease]
- Uhl anomaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- arrhythmogenic right ventricular dysplasia, familial, 1 [MeSH Supplementary Concept]
- arrhythmogenic right ventricular dysplasia, familial, 1 [MeSH concept]

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