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General Information
Name
dilated cardiomyopathy 1D
FlyBase ID
FBhh0000163
Disease Ontology Term
Parent Disease
Overview

This report describes dilated cardiomyopathy 1D, which is one of several forms of heart disease associated with the human cardiac troponin gene, TNNT2 (see OMIM:191045). Information about fly models for this and related diseases can be found in the report 'cardiomyopathy, TNNT2-related' (FBhh0000419).

[updated Oct. 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: dilated cardiomyopathy
Symptoms and phenotype

Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. DCM usually presents with any one of the following: (1) Heart failure with symptoms of congestion (edema, orthopnea, paroxysmal nocturnal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion); (2) arrhythmias and/or conduction system disease; (3) thromboembolic disease (from left ventricular mural thrombus) including stroke. [from Dilated Cardiomyopathy Overview, pubmed:20301486 2016.01.26]

Dilated cardiomyopathy (CMD) is characterized by cardiac dilatation and reduced systolic function. CMD is the most frequent form of cardiomyopathy and accounts for more than half of all cardiac transplantations performed in patients between 1 and 10 years of age. A heritable pattern is present in 20 to 30% of cases. Most familial CMD pedigrees show an autosomal dominant pattern of inheritance, usually presenting in the second or third decade of life (summary by Levitas et al., 2010, pubmed:20551992). [from OMIM:115200, 2016.01.27]

Specific Disease Summary: dilated cardiomyopathy 1D
OMIM report

[CARDIOMYOPATHY, DILATED, 1D; CMD1D](https://omim.org/entry/601494)

Human gene(s) implicated

[TROPONIN T2, CARDIAC; TNNT2](https://omim.org/entry/191045)

Symptoms and phenotype

Kamisago et al. (2000, pubmed:11106718) 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 of infantile cardiomyopathy. In another family (family D), a 19-year-old female had postpartum congestive heart failure, resulting in sudden death. Her son died of congestive heart failure at the age of 15 years; postmortem showed marked right ventricular dilatation and normal cardiac ultrastructure. Her 17-year-old sister had died of congestive heart failure, and postmortem showed marked dilatation of the right and left ventricles with histologic findings of increased interstitial fibrosis without myocyte disarray. [From OMIM:601494, 2016.02.02]

Genetics

Dilated cardiomyopathy 1D (CMD1D) has been shown to result from heterozygous mutation in the gene encoding cardiac troponin T (TNNT2). Mutation in the TNNT2 gene has also been associated with left ventricular noncompaction (LVNC6, OMIM:601494), hypertrophic cardiomyopathy (CMH2; OMIM:192600), and restrictive cardiomyopathy (RCM3; OMIM:612422). [From OMIM:601494, 2016.02.02]

Cellular phenotype and pathology
Molecular information

The troponin complex is located on the thin filament of striated muscle and is composed of 3 component polypeptides: troponin T (TNNT1, OMIM:191041; and TNNT2), troponin I (TNNI1, OMIM:191042; TNNI2, OMIM:191043; and TNNI3, OMIM:191044), and troponin C (TNNC1, OMIM:191040; and TNNC2 OMIM:191039). Three troponin T genes have been described on the basis of molecular cloning in humans and other vertebrates. These are expressed in a tissue-specific manner and encode the troponin T isoforms expressed in cardiac muscle, slow skeletal muscle (TNNT1), and fast skeletal muscle (TNNT3; OMIM:600692). Each of these genes is subject to alternative splicing, resulting in the production of multiple tissue-specific isoforms. [From OMIM:191045, 2016.02.02]

External links
Disease synonyms
CMD1D
left ventricular noncompaction 6
LVNC6
cardiomyopathy, dilated, 1D; CMD1D
Ortholog Information
Human gene(s) in FlyBase
Human gene (HGNC)
D. melanogaster ortholog (based on DIOPT)
Comments on ortholog(s)

Many to one: 3 human to 1 Drosophila.

Other mammalian ortholog(s) used
    D. melanogaster Gene Information (0)
    Synthetic Gene(s) Used (0)
    Summary of Physical Interactions (0 groups)
    Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
    Genetic Tools, Stocks and Reagents
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    Contact lab of origin for a reagent not available from a public stock center.
    Bloomington Stock Center Disease Page
    Selected mammalian transgenes
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    Selected Drosophila classical alleles
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    References (3)