Familial isolated arrhythmogenic right ventricular dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: Familial isolated arrhythmogenic ventricular cardiomyopathy
Familial isolated arrhythmogenic ventricular dysplasia
Familial isolated ARVC
Familial isolated ARVD
Familial isolated arrhythmogenic right ventricular cardiomyopathy
Number of Symptoms 20
OrphanetNr: 217656
OMIM Id: 107970
600996
602086
602087
604400
604401
607450
609040
610193
610476
611528
ICD-10: I42.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: <= 43.5 of 100 000
Inheritance: Autosomal recessive
Monogenic
Autosomal dominant
20301310 [IBIS]
Age of onset: All ages
20301310 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Arrhythmogenic right ventricular cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Comment:

This term does not characterize a disease but a group of diseases. Annotations can be found at a more specific level.

Symptom Information: Sort by abundance 

1
 (MedDRA:10058093) Arrhythmogenic right ventricular dysplasia 20301310 IBIS 5 / 7739
2
 (HPO:0011103) Abnormality of the left ventricular outflow tract 20301310 IBIS 12 / 7739
3
 (HPO:0001707) Abnormality of the right ventricle 20301310 IBIS 7 / 7739
4
 (HPO:0006698) Ventricular aneurysm 20172912 IBIS 3 / 7739
5
 (HPO:0001637) Abnormality of the myocardium 20301310 IBIS 76 / 7739
6
 (HPO:0011663) Right ventricular cardiomyopathy 20301310 IBIS 17 / 7739
7
 (MedDRA:10049694) Left ventricular dysfunction 20301310 IBIS 10 / 7739
8
 (MedDRA:10058597) Right ventricular dysfunction 20301310 IBIS 2 / 7739
9
 (MedDRA:10059162) Ventricular dyskinesia 20301310 IBIS 1 / 7739
10
 (HPO:0010872) EKG: T-wave inversion 20172912 IBIS 19 / 7739
11
 (HPO:0005150) Abnormal atrioventricular conduction 20172912 IBIS 16 / 7739
12
 (HPO:0001962) Palpitations 20301310 IBIS 62 / 7739
13
 (HPO:0004756) Ventricular tachycardia 20301310 IBIS 55 / 7739
14
 (HPO:0001678) Atrioventricular block 20172912 IBIS 59 / 7739
15
 (HPO:0011713) Left bundle branch block 20301310 IBIS 30 / 7739
16
 (HPO:0001695) Cardiac arrest 20301310 IBIS 87 / 7739
17
 (HPO:0001699) Sudden death 20301310 IBIS 34 / 7739
18
 (HPO:0001279) Syncope 20301310 IBIS 94 / 7739
19
 (MedDRA:10064195) Right ventricle outflow tract obstruction 20301310 IBIS 4 / 7739
20
 (OMIM) Fibrofatty replacement of right ventricular myocardium 20301310 IBIS 11 / 7739

Associated genes:

CTNNA3; DSC2; DSG2; DSP; JUP; PKP2; RYR2; TGFB3; TMEM43; DES; locus ARVD3 (14q12-q22); locus ARVD4 (2q32.1-q32.3); locus AVRD6 (10p14-p12);

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
CTNNA3 rs587777134 pathogenic RCV000087056.3
CTNNA3 rs587777135 pathogenic RCV000087057.3
DSC2 rs397514043 pathogenic RCV000024331.28

Additional Information: