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FB2026_02
,
released June 18, 2026
This report describes dilated cardiomyopathy 1FF, which is one of several forms of heart disease associated with the human cardiac troponin gene, TNNI3 (see MIM:191044). Information about fly models for this and related diseases can be found in the report 'cardiomyopathy, TNNI3-related' (FBhh0000420).
[updated Oct. 2016 by FlyBase; FBrf0222196]
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 MIM:115200, 2016.01.27]
[CARDIOMYOPATHY, DILATED, 1FF; CMD1FF](https://omim.org/entry/613286)
[TROPONIN I, CARDIAC; TNNI3](https://omim.org/entry/191044)
Carballo et al. (2009, pubmed:19590045) analyzed the TNNI3 gene in 96 probands with dilated cardiomyopathy (CMD) in whom screening for mutations in 6 more commonly implicated CMD genes was negative and identified heterozygosity for 2 different TNNI3 missense mutations in 2 male probands ( OMOM:191044.0012 and MIM:191044.0013, respectively). The probands, who were diagnosed with CMD at ages 15 and 24 years, respectively, both required cardiac transplantation soon after diagnosis. [From MIM:613286, 2016.02.02]
Dilated cardiomyopathy-1FF (CMD1FF) is caused by homozygous mutation in the gene encoding cardiac troponin I (TNNI3). [From MIM:613286, 2016.02.02]
The troponin complex is located on the thin filament of striated muscle and is composed of 3 component polypeptides: troponin I (TNNI1, MIM:191042; TNNI2, MIM:191043; and TNNI3, OMIM), troponin T (TNNT1, MIM:191041; and TNNT2, MIM:191045), and troponin C (TNNC1, MIM:191040; and TNNC2 MIM: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; MIM:600692). Each of these genes is subject to alternative splicing, resulting in the production of multiple tissue-specific isoforms. [From MIM:191044 and MIM:191045, 2016.02.02]
Many to one: 3 human to 1 Drosophila.