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General Information
Name
cardiomyopathy, familial hypertrophic
FlyBase ID
FBhh0000409
Disease Ontology Term
Parent Disease
OMIM
Overview

This report describes general characteristics of the group of diseases classified as familial hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy is a genetically heterogeneous disorder, with multiple genes and mapped loci. A listing of familial hypertrophic cardiomyopathy subtypes, as defined by OMIM, can be found in the table below, with links to more detailed reports for subtypes that have been investigated using fly models. In many cases, a single gene in human has been implicated in more than one form of cardiomyopathy. Reports of experimental results in flies have been organized by causative gene.

[updated Oct. 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: cardiomyopathy, familial hypertrophic
OMIM report
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]

Genetics
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
hypertrophic cardiomyopathy
HCM
FHC
ventricular hypertrophy, hereditary
familial hypertrophic cardiomyopathy
cardiomyopathy, hypertrophic
asymmetric septal hypertrophy
CMH
ASH
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) (0 alleles)
      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 (9)