Arrhythmogenic right ventricular dysplasia, familial, 4

General Information (adopted from Orphanet):

Synonyms, Signs: ARVC4
ARVD4
Arrhythmogenic right ventricular cardiomyopathy 4
Number of Symptoms 18
OrphanetNr:
OMIM Id: 602087
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
9344647 [IBIS]
Age of onset: All ages
9344647 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

ARVC4 is caused by mutation in locus 2q32.1-q32.3 (PMID:9344640).

Symptom Information: Sort by abundance 

1
 (HPO:0006682) Ventricular extrasystoles 8142187 IBIS 25 / 7739
2
 (HPO:0004756) Ventricular tachycardia 8142187 IBIS 55 / 7739
3
 (HPO:0006677) Prolonged QRS complex 8142187 IBIS 16 / 7739
4
 (OMIM) Fibrofatty replacement of right ventricular myocardium 8142187 IBIS 11 / 7739
5
 (HPO:0002375) Hypokinesia 8142187 IBIS 25 / 7739
6
 (HPO:0002617) Aneurysm 8142187 IBIS 34 / 7739
7
 (HPO:0005133) Right ventricular dilatation 8142187 IBIS 14 / 7739
8
 (HPO:0012666) Severely reduced ejection fraction 8142187 IBIS 9 / 7739
9
 (HPO:0001279) Syncope 9344647 IBIS 94 / 7739
10
 (HPO:0011713) Left bundle branch block 9344647 IBIS 30 / 7739
11
 (HPO:0004308) Ventricular arrhythmia 9344647 IBIS 46 / 7739
12
 (HPO:0003338) Focal necrosis of right ventricular muscle cells 9344647 IBIS 2 / 7739
13
 (HPO:0003140) T-wave inversion in the right precordial leads 9344647 IBIS 4 / 7739
14
 (HPO:0001645) Sudden cardiac death 9344647 IBIS 84 / 7739
15
 (HPO:0011663) Right ventricular cardiomyopathy 9344647 IBIS 17 / 7739
16
 (OMIM) Arrhythmogenic right ventricular cardiomyopathy 9344647 IBIS 3 / 7739
17
 (OMIM) Localized left ventricular involvement with left bundle branch block 9344647 IBIS 1 / 7739
18
 (OMIM) T-wave inversion in the right precordial leads and late potentials in signal-averaging ECG 9344647 IBIS 3 / 7739

Associated genes:

locus ARVD4 (2q32.1-q32.3);

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: