Open Close
General Information
Name
cardiomyopathy, familial hypertrophic 4
FlyBase ID
FBhh0000414
Overview

This report describes cardiomyopathy, familial hypertrophic 4, which is one of several forms of heart disease associated with the human cardiac myosin-binding protein C (MYBPC3) (see OMIM:600958). Information about fly models for this and related diseases can be found in the report 'cardiomyopathy, MYBPC3-related' (FBhh0000421).

Variant(s) implicated in human disease tested (as transgenic human gene): truncated variants of Hsap\MYBPC3 have been introduced into flies.

[updated Oct. 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: cardiomyopathy, familial hypertrophic
Symptoms and phenotype

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 OMIM:192600; 2016.10.28]

Specific Disease Summary: cardiomyopathy, familial hypertrophic 4
OMIM report

[CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4](https://omim.org/entry/115197)

Human gene(s) implicated

[MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3](https://omim.org/entry/600958)

Symptoms and phenotype

See general description of hypertrophic cardiomyopathy, above.

Genetics

Familial hypertrophic cardiomyopathy 4 is caused by heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3). [from OMIM:115197; 2016.10.13]

Cellular phenotype and pathology
Molecular information

Cardiac myosin-binding protein C (MYBPC3) is arrayed transversely in sarcomere A-bands and binds myosin heavy chain (see OMIM:160710) in thick filaments and titin (OMIM:188840) in elastic filaments. Phosphorylation of this protein appears to modulate contraction. [From OMIM:600958, 2016.02.01]

External links
Disease synonyms
CMH4
familial hypertrophic cardiomyopathy 4
Ortholog Information
Human gene(s) in FlyBase
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) (3 alleles)
    Models Based on Experimental Evidence ( 3 )
    Modifiers Based on Experimental Evidence ( 3 )
    Allele
    Disease
    Interaction
    References
    Genetic Tools, Stocks and Reagents
    Sources of Stocks
    Contact lab of origin for a reagent not available from a public stock center.
    Bloomington Stock Center Disease Page
    Selected mammalian transgenes
    Allele
    Transgene
    Publicly Available Stocks
    Selected Drosophila transgenes
    Allele
    Transgene
    Publicly Available Stocks
    RNAi constructs available
    Allele
    Transgene
    Publicly Available Stocks
    Selected Drosophila classical alleles
    Allele
    Allele class
    Mutagen
    Publicly Available Stocks
    References (5)