Prenatal diagnosis of feta noncompaction cardiomyopathy with de novo
We report what apprears to be the first case of fetal noncompaction
cardiomyopathy in both ventricles accompanied by a mutation in the
calmodulin gene (CALM2): A 25-year-old woman was referred to our
hospital at 25+1 weeks of gestation for evaluation of fetal defects. A
postnatal echocardiography showed biventricular noncompaction
cardiomyopathy. After terminated the pregnancy, fetal noncompaction
cardiomyopathy was comfirmed by autopsy and histopathologic examination.
And the whole-exome sequencing of genomic DNA demonstrated a de novo
heterozygous mutation (c.389A>G;p.D130G) in CALM2, whereas
the parents were normal. In this case report, we highlight the gene
mutation in noncompaction cardiomyopathy.