Cardiomyopathy, dilated, 1D

General Information (adopted from Orphanet):

Synonyms, Signs: LVNC6, included
CMD1d
Left ventricular noncompaction 6, included
Number of Symptoms 22
OrphanetNr:
OMIM Id: 601494
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Monogenic
Autosomal dominant
18651846 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, dilated, 1D is associated with mutations in TNNT2 (PMID:18651846).

Symptom Information: Sort by abundance 

1
(HPO:0002094) Dyspnea 20083571 IBIS 132 / 7739
2
(HPO:0001706) Endocardial fibroelastosis 20083571 IBIS 20 / 7739
3
(HPO:0005162) Left ventricular failure 18506004 IBIS 18 / 7739
4
(HPO:0001712) Left ventricular hypertrophy 11106718 IBIS 76 / 7739
5
(HPO:0005133) Right ventricular dilatation 11106718 IBIS 14 / 7739
6
(HPO:0001639) Hypertrophic cardiomyopathy 18651846 IBIS 137 / 7739
7
(HPO:0011664) Left ventricular noncompaction cardiomyopathy 20083571 IBIS 10 / 7739
8
(HPO:0001644) Dilated cardiomyopathy 11106718 IBIS 141 / 7739
9
(HPO:0001685) Myocardial fibrosis 11106718 IBIS 30 / 7739
10
(HPO:0001723) Restrictive cardiomyopathy 18651846 IBIS 22 / 7739
11
(HPO:0003116) Abnormal echocardiogram 20083571 IBIS 33 / 7739
12
(HPO:0005110) Atrial fibrillation 18651846 IBIS 71 / 7739
13
(MedDRA:10003668) Atrial tachycardia 18651846 IBIS 3 / 7739
14
(HPO:0001635) Congestive heart failure 11106718 IBIS 232 / 7739
15
(HPO:0001645) Sudden cardiac death 11106718 IBIS 84 / 7739
16
(HPO:0030149) Cardiogenic shock 18506004 IBIS 4 / 7739
17
(HPO:0030682) Left ventricular noncompaction 18506004 IBIS 4 / 7739
18
(IBIS) Intertrabecular recesses 20083571 IBIS 2 / 7739
19
(OMIM) Left ventricular dilatation (1 patient) 11106718 IBIS 5 / 7739
20
(OMIM) Left ventricular dilation 18506004 IBIS 13 / 7739
21
(OMIM) Myocyte disarray on cardiac biopsy 11106718 IBIS 6 / 7739
22
(OMIM) Myocyte hypertrophy 15542288 IBIS 10 / 7739

Associated genes:

TNNT2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
TNNT2 rs121964855 pathogenic RCV000013218.16
TNNT2 rs121964860 pathogenic RCV000013228.24
TNNT2 rs121964861 pathogenic RCV000013229.22
TNNT2 rs397516450 likely pathogenic RCV000036562.2
TNNT2 rs397516454 likely pathogenic RCV000036570.2
TNNT2 rs397516461 likely pathogenic RCV000036581.2
TNNT2 rs397516464 likely pathogenic RCV000036586.2
TNNT2 rs397516464 likely pathogenic RCV000036585.2
TNNT2 rs397516469 likely pathogenic RCV000036594.2
TNNT2 rs397516471 likely pathogenic RCV000036597.2
TNNT2 rs45525839 likely pathogenic RCV000036587.2
TNNT2 rs45578238 pathogenic RCV000036607.3
TNNT2 rs74315379 pathogenic RCV000013225.23

Additional Information:

Clinical Description OMIM Kamisago et al. (2000) studied families with dilated cardiomyopathy. In 1 family (family C), sudden death occurred in a 26- and a 27-year-old as well as in a 1- and an 8-month-old, both of whom had a diagnosis ...
Molecular genetics OMIM In 2 unrelated families with familial dilated cardiomyopathy, Kamisago et al. (2000) found a 3-bp deletion in the TNNT2 gene resulting in the elimination of 1 of 4 lysine residues encoded in tandem in exon 13 (191045.0006). Haplotype ...