Cardiomyopathy, dilated, 1E

General Information (adopted from Orphanet):

Synonyms, Signs: CMD1E
CDCD2
Cardiomyopathy, dilated, with conduction defect 2
Cardiomyopathy, dilated, with conduction disorder and arrhythmia
Number of Symptoms 19
OrphanetNr:
OMIM Id: 601154
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Monogenic
Autosomal dominant
21167004 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, dilated, 1E is caused by mutations in SCN5A (PMID:21167004).

Symptom Information: Sort by abundance 

1
(HPO:0001279) Syncope 22766342 IBIS 94 / 7739
2
(HPO:0004749) Atrial flutter 22766342 IBIS 20 / 7739
3
(HPO:0001962) Palpitations 22766342 IBIS 62 / 7739
4
(HPO:0005110) Atrial fibrillation 22766342 IBIS 71 / 7739
5
(HPO:0011713) Left bundle branch block 3953067 IBIS 30 / 7739
6
(HPO:0011712) Right bundle branch block 3953067 IBIS 34 / 7739
7
(HPO:0001678) Atrioventricular block 21167004 IBIS 59 / 7739
8
(HPO:0011675) Arrhythmia 21167004 IBIS 226 / 7739
9
(HPO:0002140) Ischemic stroke 3953067 IBIS 70 / 7739
10
(HPO:0006673) Reduced systolic function 3953067 IBIS 11 / 7739
11
(HPO:0001644) Dilated cardiomyopathy 21167004 IBIS 141 / 7739
12
(HPO:0004755) Supraventricular tachycardia 3953067 IBIS 20 / 7739
13
(OMIM) Premature atrial contraction (PAC) 21167004 IBIS 3 / 7739
14
(OMIM) Conduction delay 3953067 IBIS 1 / 7739
15
(OMIM) Atrial standstill 12522116 IBIS 6 / 7739
16
(OMIM) Sinus node dysfunction 3953067 IBIS 3 / 7739
17
(OMIM) Conduction system defects 21167004 IBIS 1 / 7739
18
(OMIM) Left ventricular enlargement 21167004 IBIS 9 / 7739
19
(OMIM) Junctional escape ventricular capture bigeminy (in some patients) 22710484 IBIS 1 / 7739

Associated genes:

SCN5A;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
SCN5A rs137854607 pathogenic RCV000010009.2
SCN5A rs137854618 pathogenic RCV000010003.4
SCN5A rs397514450 pathogenic RCV000010008.2
SCN5A rs45546039 pathogenic RCV000032639.4
SCN5A rs45563942 pathogenic RCV000032640.2
SCN5A rs45620037 pathogenic RCV000030889.2

Additional Information:

Clinical Description OMIM Greenlee et al. (1986) reported a large family of German and Swiss ancestry with dilated cardiomyopathy, conduction defect, and arrhythmia. The phenotype included sinus node dysfunction in adolescence, supraventricular tachyarrhythmia, and progressive atrial ventricular and intraventricular conduction delay ...
Molecular genetics OMIM In affected members of the family reported by Greenlee et al. (1986), McNair et al. (2004) identified heterozygosity for an asp1275-to-asn mutation (D1275N; 600163.0034) in the SCN5A gene.

Groenewegen et al. (2003) found the same D1275N ...