Cardiomyopathy, dilated, 1DD

General Information (adopted from Orphanet):

Synonyms, Signs: CMD1DD
Number of Symptoms 25
OrphanetNr:
OMIM Id: 613172
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Monogenic
Sporadic
19712804 [IBIS]
Age of onset: Adult
19712804 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial isolated dilated cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Comment:

Cardiomyopathy, dilated, 1DD is caused by mutations in RBM20 (PMID:19712804).

Symptom Information: Sort by abundance 

1
(HPO:0005165) Shortened PR interval 19712804 IBIS 9 / 7739
2
(HPO:0011713) Left bundle branch block 19712804 IBIS 30 / 7739
3
(HPO:0005110) Atrial fibrillation 19712804 IBIS 71 / 7739
4
(HPO:0001644) Dilated cardiomyopathy 19712804, 20590677 IBIS 141 / 7739
5
(HPO:0004756) Ventricular tachycardia 19712804 IBIS 55 / 7739
6
(HPO:0011705) First degree atrioventricular block 19712804 IBIS 13 / 7739
7
(HPO:0001688) Sinus bradycardia 19712804 IBIS 18 / 7739
8
(HPO:0006682) Ventricular extrasystoles 19712804 IBIS 25 / 7739
9
(HPO:0001663) Ventricular fibrillation 19712804 IBIS 35 / 7739
10
(HPO:0001645) Sudden cardiac death 19712804 IBIS 84 / 7739
11
(HPO:0001685) Myocardial fibrosis 19712804 IBIS 30 / 7739
12
(HPO:0001635) Congestive heart failure 19712804 IBIS 232 / 7739
13
(HPO:0012666) Severely reduced ejection fraction 19712804 IBIS 9 / 7739
14
(HPO:0004755) Supraventricular tachycardia 19712804 IBIS 20 / 7739
15
(HPO:0001712) Left ventricular hypertrophy 19712804 IBIS 76 / 7739
16
(HPO:0001640) Cardiomegaly 19712804 IBIS 81 / 7739
17
(HPO:0011712) Right bundle branch block 19712804 IBIS 34 / 7739
18
(MedDRA:10058269) Troponin T increased 19712804 IBIS 1 / 7739
19
(OMIM) Left axis deviation 19712804 IBIS 7 / 7739
20
(OMIM) Premature ventricular contractions, including couplets and triplets of variable morphology 19712804 IBIS 2 / 7739
21
(OMIM) Left ventricular dilation 19712804 IBIS 13 / 7739
22
(MedDRA:10052333) Electrocardiogram ST-T segment abnormal 19712804 IBIS 5 / 7739
23
(MedDRA:10067286) Left atrial dilatation 19712804 IBIS 10 / 7739
24
(MedDRA:10058268) Troponin I increased 19712804 IBIS 1 / 7739
25
(OMIM) Intraventricular conduction delay 19712804 IBIS 7 / 7739

Associated genes:

RBM20;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
RBM20 rs267607001 pathogenic RCV000000293.3
RBM20 rs267607002 pathogenic RCV000170520.2
RBM20 rs267607003 pathogenic RCV000000292.3
RBM20 rs267607004 pathogenic RCV000000295.4
RBM20 rs267607005 pathogenic RCV000000296.2
RBM20 rs727504859 likely pathogenic RCV000156214.1
TNNT2 rs483352832 pathogenic RCV000119344.2

Additional Information:

Clinical Description OMIM Brauch et al. (2009) studied 2 large multigenerational European American families with dilated cardiomyopathy (CMD). In 'kindred DC-12,' the patriarch, who was of Scottish ancestry, died suddenly at 39 years of age. Ten family members developed documented CMD, ...
Genotype-Phenotype Correlations OMIM Brauch et al. (2009) stated that mutations in RBM20 were associated with clinically aggressive CMD: the 39 mutation-positive patients in the 8 families were diagnosed 9 years earlier than a comparable series of patients with sporadic and familial ...
Molecular genetics OMIM In 2 large multigenerational families with dilated cardiomyopathy (CMD) mapping to chromosome 10q25-q26, Brauch et al. (2009) analyzed candidate genes and identified 2 different heterozygous missense mutations in exon 9 of the RMB20 gene (613171.0001 and 613171.0002, respectively) ...