Biventricular non-compaction cardiomyopathy and tricuspid hypoplasia in a novel gene variant.

A maternally inherited novel pathogenic gene variant c.767G>T, p.R256I [NM_001145408], manifested in a male infant as dilated cardiomyopathy with severe left ventricular dysfunction and dilation, biventricular non-compaction, tricuspid hypoplasia, and hydrocephaly. To the best of our knowledge, no previous variants with biventricular non-compaction have been associated with tricuspid valve hypoplasia. Hence, this case introduces a new pathogenic variant observed in the and adds to the range of cardiac phenotypes identified in variants.