Arrhythmogenic right ventricular dysplasia, familial, 8

General Information (adopted from Orphanet):

Synonyms, Signs: ARVC8
ARVD8
Arrhythmogenic right ventricular cardiomyopathy 8
Number of Symptoms 20
OrphanetNr:
OMIM Id: 607450
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Monogenic
12373648, 23954618 [IBIS]
Age of onset: All ages
12373648, 23954618 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

ARVC8 is caused by mutation in DSP (PMID:12373648).

Symptom Information: Sort by abundance 

1
 (HPO:0010872) EKG: T-wave inversion 23954618 IBIS 19 / 7739
2
 (MedDRA:10014378) Electrocardiogram QRS complex abnormal 23954618 IBIS 2 / 7739
3
 (OMIM) Fibro-fatty replacement of right ventricular myocardium. 12373648; 23954618 IBIS 4 / 7739
4
 (HPO:0001711) Abnormality of the left ventricle 23954618 IBIS 22 / 7739
5
 (HPO:0003116) Abnormal echocardiogram 12373648 IBIS 33 / 7739
6
 (HPO:0012666) Severely reduced ejection fraction 12373648 IBIS 9 / 7739
7
 (HPO:0001707) Abnormality of the right ventricle 12373648 IBIS 7 / 7739
8
 (HPO:0003115) Abnormal EKG 12373648 IBIS 44 / 7739
9
 (OMIM) Right axis deviation 12373648 IBIS 6 / 7739
10
 (OMIM) Left axis deviation 12373648 IBIS 7 / 7739
11
 (MedDRA:10052464) Electrocardiogram repolarisation abnormality 12373648 IBIS 4 / 7739
12
 (HPO:0005135) EKG: T-wave abnormalities 12373648 IBIS 19 / 7739
13
 (HPO:0011713) Left bundle branch block 12373648 IBIS 30 / 7739
14
 (MedDRA:10058093) Arrhythmogenic right ventricular dysplasia 12373648 IBIS 5 / 7739
15
 (HPO:0001663) Ventricular fibrillation 12373648 IBIS 35 / 7739
16
 (HPO:0001645) Sudden cardiac death 12373648 IBIS 84 / 7739
17
 (HPO:0001635) Congestive heart failure 12373648 IBIS 232 / 7739
18
 (HPO:0011663) Right ventricular cardiomyopathy 12373648 IBIS 17 / 7739
19
 (HPO:0004308) Ventricular arrhythmia 12373648 IBIS 46 / 7739
20
 (HPO:0004756) Ventricular tachycardia 12373648 IBIS 55 / 7739

Associated genes:

DSP;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
DSP rs121912992 pathogenic RCV000018332.28
DSP rs121912998 pathogenic RCV000018340.28
DSP rs121912999 pathogenic RCV000018341.28
DSP rs397516915 likely pathogenic RCV000037989.2
DSP rs397516919 likely pathogenic RCV000037998.2
DSP rs397516923 likely pathogenic RCV000038006.2
DSP rs397516929 likely pathogenic RCV000038023.2
DSP rs397516932 likely pathogenic RCV000038027.2
DSP rs397516933 likely pathogenic RCV000038031.2
DSP rs397516940 likely pathogenic RCV000038049.2
DSP rs397516943 likely pathogenic RCV000038058.2
DSP rs397516946 likely pathogenic RCV000038064.2
DSP rs397516973 likely pathogenic RCV000168636.1
DSP rs727502993 likely pathogenic RCV000150551.1
DSP rs727503001 likely pathogenic RCV000150567.1
DSP rs727503003 likely pathogenic RCV000150573.1
DSP rs727504443 likely pathogenic RCV000155023.2
DSP rs727505260 likely pathogenic RCV000156783.1
DSP rs727505271 likely pathogenic RCV000156797.1
DSP rs730880082 likely pathogenic RCV000168644.1
DSP rs786204293 likely pathogenic RCV000168639.1
DSP rs786204299 likely pathogenic RCV000168653.1

Additional Information:

Molecular genetics OMIM In the family with ARVD mapping to 6p, Rampazzo et al. (2002) identified a mutation in the desmoplakin gene (125647.0003). They focused on the DSP gene because a homozygous DSP nonsense mutation had been reported to cause a ...
Population genetics OMIM ARVD8 is probably an infrequent form of ARVD, at least in northeast Italy; among 16 families in which Rampazzo et al. (2002) firmly established linkage with ARVD loci, this was the only family linked to 6p.