Arrhythmogenic right ventricular dysplasia, familial, 2

General Information (adopted from Orphanet):

Synonyms, Signs: ARVD2
ARVC2
Arrhythmogenic right ventricular cardiomyopathy 2
Number of Symptoms 18
OrphanetNr:
OMIM Id: 600996
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Monogenic
11159936 [IBIS]
Age of onset: All ages
11159936 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

ARVC2 is caused by mutation in RYR2 (PMID:11159936). Several cases of juvenile sudden death were reported (PMID:8589694).

Symptom Information: Sort by abundance 

1
(HPO:0010872) EKG: T-wave inversion 8589694 IBIS 19 / 7739
2
(OMIM) T-wave inversion in the right precordial leads and late potentials in signal-averaging ECG 8589694 IBIS 3 / 7739
3
(MedDRA:10050510) Ventricular hypokinesia 8589694 IBIS 5 / 7739
4
(HPO:0001699) Sudden death 8589694 IBIS 34 / 7739
5
(HPO:0006677) Prolonged QRS complex 8589694 IBIS 16 / 7739
6
(HPO:0012664) Reduced ejection fraction 8589694 IBIS 32 / 7739
7
(HPO:0004308) Ventricular arrhythmia 8589694 IBIS 46 / 7739
8
(HPO:0004758) Effort-induced polymorphic ventricular tachycardias 8589694 IBIS 3 / 7739
9
(HPO:0004756) Ventricular tachycardia 25041964 IBIS 55 / 7739
10
(HPO:0003115) Abnormal EKG 25041964 IBIS 44 / 7739
11
(HPO:0001645) Sudden cardiac death 8589694 IBIS 84 / 7739
12
(HPO:0005133) Right ventricular dilatation 25041964 IBIS 14 / 7739
13
(HPO:0011713) Left bundle branch block 8589694 IBIS 30 / 7739
14
(HPO:0006698) Ventricular aneurysm 8589694 IBIS 3 / 7739
15
(HPO:0011663) Right ventricular cardiomyopathy 8589694 IBIS 17 / 7739
16
(OMIM) Fibro-fatty replacement of right ventricular myocardium. 8589694 IBIS 4 / 7739
17
(OMIM) Fibrofatty replacement of right ventricular myocardium 25041964 IBIS 11 / 7739
18
(OMIM) Arrhythmogenic right ventricular cardiomyopathy. Cardiac electrical instability. Ventricular arrhythmias. Ventricular aneurysms. Effort-induced polymorphic ventricular tachycardias. 8589694 IBIS 1 / 7739

Associated genes:

RYR2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
RYR2 rs121918601 pathogenic RCV000013824.23
RYR2 rs121918602 pathogenic RCV000013825.17

Additional Information:

Clinical Description OMIM Rampazzo et al. (1995) performed studies in a family with a 'concealed' form of ARVD; affected members showed no change in heart size and had normal standard ECG and functional capacity, but consistently showed effort-induced polymorphic ventricular tachycardias. ...
Molecular genetics OMIM Tiso et al. (2001) refined the physical mapping of the critical ARVD2 region, excluded ACTN2 and nidogen (NID; 131390) as candidate genes, elucidated the genomic structure of RYR2, and identified RYR2 mutations in 4 independent ARVD2 families. In ...