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Dilated cardiomyopathy 1Y

Synonyms
TPM1-Related Dilated Cardiomyopathy

Summary

Dilated cardiomyopathy-1Y (CMD1Y) is characterized by severe progressive cardiac failure, resulting in death in the third to sixth decades of life in some patients. Electron microscopy shows an abnormal sarcomere structure (Olson et al., 2001). In left ventricular noncompaction-9 (LVNC9), patients may present with cardiac failure or may be asymptomatic. Echocardiography shows noncompaction of the apex and midventricular wall of the left ventricle (Probst et al., 2011). Some patients also exhibit Ebstein anomaly of the tricuspid valve (Kelle et al., 2016) and some have mitral valve insufficiency (Nijak et al., 2018). [from OMIM]

Available tests

56 tests are in the database for this condition.

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Clinical tests (56 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C15orf13, CMD1Y, CMH3, HEL-S-265, HTM-alpha, LVNC9, TMSA, TPM1
    Summary: tropomyosin 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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