Prenatal diagnosis of feta noncompaction cardiomyopathy with de novo CALM2 mutation
Authorea (Authorea)(2021)
Abstract
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.
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Key words
prenatal diagnosis,feta noncompaction,mutation
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