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General Information
cardiomyopathy, familial hypertrophic 7
FlyBase ID

This report describes cardiomyopathy, familial hypertrophic 7, which is one of several forms of heart disease associated with the human cardiac troponin gene, TNNI3 (see OMIM: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]

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 7
OMIM report


Human gene(s) implicated


Symptoms and phenotype

See general description of hypertrophic cardiomyopathy, above.


Familial hypertrophic cardiomyopathy 7 is caused by heterozygous mutation in the TNNI3 gene. [from OMIM:613690; 2016.10.13]

Cellular phenotype and pathology
Molecular information

The troponin complex is located on the thin filament of striated muscle and is composed of 3 component polypeptides: troponin I (TNNI1, OMIM:191042; TNNI2, OMIM:191043; and TNNI3, OMIM), troponin T (TNNT1, OMIM:191041; and TNNT2, OMIM:191045), and troponin C (TNNC1, OMIM:191040; and TNNC2 OMIM:191039). [From OMIM:191044; 2016.02.02]

External links
Disease synonyms
familial hypertrophic cardiomyopathy 7
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
      Publicly Available Stocks
      Selected Drosophila transgenes
      Publicly Available Stocks
      RNAi constructs available
      Publicly Available Stocks
      Selected Drosophila classical alleles
      Allele class
      Publicly Available Stocks
      References (2)