This report describes dilated cardiomyopathy 1EE, which is one of several forms of heart disease associated with the gene MYH6. Information about fly models for this and related diseases can be found in the report 'cardiomyopathy, MYH6-MYH7-related' (FBhh0000422).
[updated Jun. 2017 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, 1EE; CMD1EE](https://omim.org/entry/613252)
[MYOSIN, HEAVY CHAIN 6, CARDIAC MUSCLE, ALPHA; MYH6](https://omim.org/entry/160710)
Dilated cardiomyopathy-1EE (CMD1EE) is caused by heterozygous mutation in the MYH6 gene. [From MIM:613252, 2016.02.01]
Cardiac muscle myosin is one of the major components of the sarcomere, the building block of the contractile system of cardiac muscle (summary by Holm et al., 2011, pubmed:21378987). The MYH6 gene encodes the alpha heavy chain subunit of cardiac myosin (alpha-MHC), a fast ATPase primarily expressed in atrial tissue [From MIM:160710, 2016.02.01]
Many to one: 10 human to 1 Drosophila.