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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Noncompaction cardiomyopathy
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Accession:HP:0012817 term browser browse the term
Definition:A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber.
Comment:Noncompaction of the ventricular myocardium is a cardiomyopathy thought to be caused by arrest of normal embryogenesis of the endocardium and myocardium. This abnormality is often associated with other congenital cardiac defects, but it is also seen in the absence of other cardiac anomalies. During early embryonic development, the myocardium is a loose network of interwoven fibers separated by deep recesses that link the myocardium with the left ventricular cavity. Gradual compaction of this spongy meshwork of fibers and intertrabecular recesses, or sinusoids, occurs between weeks 5 and 8 of embryonic life, proceeding from the epicardium to endocardium and from the base of the heart to the apex. Noncompaction of the ventricular myocardium (NVM) is an uncommon finding. It is thought to be caused by arrest of the normal process of endomyocardial morphogenesis. The left ventricle is uniformly affected, but biventricular noncompaction has been reported, with right ventricular noncompaction described in less than one-half of patients. Because of difficulty in distinguishing normal variants in the highly trabeculated right ventricle from the pathological noncompacted ventricle, several authors dispute the existence of right ventricular noncompaction [PMID:15210614].
Synonyms:exact_synonym: Noncompaction of the ventricular myocardium;   Spongiform cardiomyopathy;   non-compaction cardiomyopathy
 xref: EFO:0004686;   UMLS:C1839832



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  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the cardiovascular system 0
        Abnormal cardiovascular system morphology 0
          Abnormal heart morphology 0
            Abnormal myocardium morphology 0
              Cardiomyopathy 0
                Noncompaction cardiomyopathy 0
                  Biventricular noncompaction cardiomyopathy 0
                  Left ventricular noncompaction cardiomyopathy 0
                  Right ventricular noncompaction cardiomyopathy 0
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