This report describes cardiomyopathy, familial hypertrophic 1 (CMH1), which is one of several forms of heart disease associated with MYH7. CMH1 exhibits autosomal dominant inheritance. Information about fly models for this and related diseases can be found in the report 'cardiomyopathy, MYH6-MYH7-related' (FBhh0000422).
Several human variants implicated in CMH1 have been characterized in flies. Variant(s) implicated in human disease tested (as analogous mutation in fly gene): P836L in the fly Mhc gene (corresponds to P838L in the human MYH7 gene); R147N in the fly Mhc gene (corresponds to K146N in the human MYH7 gene); R249Q in the fly Mhc gene (corresponds to R249Q in the human MYH7 gene).
[updated Mar. 2020 by FlyBase; FBrf0222196]
Familial hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of cardiac muscle. Thickening usually occurs in the interventricular septum, the muscular wall that separates the left ventricle from the right ventricle. Cardiac hypertrophy often begins in adolescence or young adulthood, although it can develop at any time throughout life. The symptoms are variable, even within the same family. While most people this condition are symptom-free or have only mild symptoms, hypertrophic cardiomyopathy can cause abnormal heart rhythms (arrhythmias) that may be life threatening. People with familial hypertrophic cardiomyopathy have an increased risk of sudden death, even if they have no other symptoms of the condition. A small number of affected individuals develop potentially fatal heart failure, which may require heart transplantation. [from Genetics Home Reference, familial hypertrophic cardiomyopathy; 2016.10.13]
Hypertrophic cardiomyopathy in early stages produces a presystolic gallop due to an atrial heart sound, and EKG changes of ventricular hypertrophy. Progressive ventricular outflow obstruction may cause palpitation associated with arrhythmia, congestive heart failure, and sudden death. Hypertrophic cardiomyopathy accounts for a significant number (exceeding 25% in one study) of sudden deaths of young athletes. [from MIM:192600; 2016.10.28]
[CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1](https://omim.org/entry/192600)
[CAVEOLIN 3; CAV3](https://omim.org/entry/601253)
[MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7](https://omim.org/entry/160760)
[MYOSIN LIGHT CHAIN KINASE 2; MYLK2](https://omim.org/entry/606566)
See general description of hypertrophic cardiomyopathy, above.
Familial hypertrophic cardiomyopathy 1 is caused by heterozygous mutation in the myosin heavy chain 7 (MYH7) gene. [from MIM:192600; 2016.10.13]
Many to one: 10 human to 1 Drosophila.
