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Dilated cardiomyopathy 1Y

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Description

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).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

46

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Genes

External Links

  • OMIM

    611878

  • Orphanet
  • HPO
  • Medgen

    C2678476

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