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left ventricular noncompaction 8

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PRDM16 gene.
Uniprot Description A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC8 is an autosomal dominant condition.
Mondo Term and Equivalent IDs
MONDO:0014152:  left ventricular noncompaction 8
UMLS:C3809288: