Arrhythmogenic right ventricular dysplasia, familial, 3

General Information (adopted from Orphanet):

Synonyms, Signs: ARVD3
ARVC3
Arrhythmogenic right ventricular cardiomyopathy 3
Number of Symptoms 16
OrphanetNr:
OMIM Id: 602086
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
8824801 [IBIS]
Age of onset: Childhood
Adult
8824801 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial isolated arrhythmogenic right ventricular dysplasia
 -Rare cardiac disease
 -Rare genetic disease

Comment:

ARVC3 is caused by mutation in locus 4q12-q22.

Symptom Information: Sort by abundance 

1
 (HPO:0006677) Prolonged QRS complex 8824801 IBIS 16 / 7739
2
 (HPO:0001678) Atrioventricular block 8824801 IBIS 59 / 7739
3
 (OMIM) Right ventricular hypokinesis (in some patients) 8824801 IBIS 5 / 7739
4
 (MedDRA:10050510) Ventricular hypokinesia 8824801 IBIS 5 / 7739
5
 (HPO:0004756) Ventricular tachycardia 8824801 IBIS 55 / 7739
6
 (HPO:0011711) Left anterior fascicular block 8824801 IBIS 7 / 7739
7
 (HPO:0005110) Atrial fibrillation 8824801 IBIS 71 / 7739
8
 (HPO:0001635) Congestive heart failure 8824801 IBIS 232 / 7739
9
 (HPO:0001279) Syncope 8824801 IBIS 94 / 7739
10
 (MedDRA:10058093) Arrhythmogenic right ventricular dysplasia 8824801 IBIS 5 / 7739
11
 (OMIM) Fibrofatty replacement of right ventricular myocardium 8824801 IBIS 11 / 7739
12
 (OMIM) Fatty infiltration of heart muscle 8824801 IBIS 3 / 7739
13
 (HPO:0011663) Right ventricular cardiomyopathy 8824801 IBIS 17 / 7739
14
 (HPO:0004308) Ventricular arrhythmia 8824801 IBIS 46 / 7739
15
 (HPO:0003140) T-wave inversion in the right precordial leads 8824801 IBIS 4 / 7739
16
 (OMIM) T-wave inversion in the right precordial leads and late potentials in signal-averaging ECG 8824801 IBIS 3 / 7739

Associated genes:

locus ARVD3 (14q12-q22);

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: