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General Information
Name
cardiomyopathy, familial hypertrophic 3
FlyBase ID
FBhh0000417
Overview

This report describes familial hypertrophic cardiomyopathy 3, which is one of several forms of heart disease associated with the human gene actin binding protein tropomyosin 1 (TPM1)(see OMIM:191010). Information about fly models for this and related diseases can be found in the report 'cardiomyopathy, TPM1-related' (FBhh0000410).

[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 3
OMIM report

[CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3](https://omim.org/entry/115196)

Human gene(s) implicated

[TROPOMYOSIN 1; TPM1](https://omim.org/entry/191010)

Symptoms and phenotype

See general description of hypertrophic cardiomyopathy, above.

Genetics

Familial hypertrophic cardiomyopathy 3 is caused by heterozygous mutation in the alpha-tropomyosin gene (TPM1). [from OMIM:15196; 2016.10.24]

Cellular phenotype and pathology
Molecular information

Tropomyosins are a family of actin-binding proteins encoded by 4 distinct genes. Each gene generates multiple striated muscle, smooth muscle, and cytoskeletal variants by alternative splicing, alternative promoter usage, and differential 3-prime end processing. Of the 4 human tropomyosin genes, TPM1 is the most versatile and encodes at least 10 tissue-specific variants via alternative splicing and/or the use of 2 promoters. The TPM1 variants encode proteins of either 248 or 284 amino acids (summary by Denz et al., 2004, pubmed:15249230). [From OMIM:191010, 2016.02.02]

External links
Disease synonyms
CMH3
familial hypertrophic cardiomyopathy 3
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)
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      Selected Drosophila classical alleles
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      References (2)