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GENATLAS PHENOTYPE
last update : 12-03-2019
Symbol LVNC8
Location 1p36.32
Name left ventricular noncompaction cardiomyopathy 8
Other name(s)
  • cardiomyopathy, dilated, 1LL
  • Corresponding gene PRDM16
    Other symbol(s) CMD1LL
    Main clinical features
  • left ventricular noncompaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle
  • heart failure with systolic and diastolic dysfunction, secondary pulmonary hypertension, and dilation of both atria and ventricles; echocardiography showed involvement of apical and lateral segments, with marked thickening of the inferior noncompacted layer below the left ventricular papillary muscles and thinning of the compacted layer
  • Genetic determination autosomal dominant
    Related entries including CMD1LL,Cardiomyopathy, dilated, 1LL
    Function/system disorder cardiovascular
    Type disease
    Remark(s)
  • impaired proliferative capacity during cardiogenesis is a primary mechanism of these PRDM16-related cardiomyopathies (PMID: 23768615))