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

Cardiomyopathy, dilated, 2I

Summary

Dilated cardiomyopathy-2I (CMD2I) is characterized by early-onset severe congestive heart failure. Some patients experience supraventricular tachycardia. Structural heart defects and nemaline bodies in cardiac and skeletal muscle have been observed (Aspit et al., 2019; Cheema et al., 2020; Gurunathan et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CMD2I, CAP2
    Summary: cyclase associated actin cytoskeleton regulatory protein 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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