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GTR Home > Conditions/Phenotypes > Cardiomyopathy, dilated, 2G

Cardiomyopathy, dilated, 2G

Summary

Dilated cardiomyopathy-2G (CMD2G) is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy. Cardiac tissue exhibits markedly shortened thin filaments, disorganized myofibrils, and reduced contractile force generation, resulting in the severe ventricular dysfunction observed. There is no evidence of skeletal muscle hypertrophy (Ahrens-Nicklas et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200. [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C-LMOD, CLMOD, CMD2G, LMOD2
    Summary: leiomodin 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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