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wen zhang
wen zhang

Public Documents 1
Prenatal diagnosis of feta noncompaction cardiomyopathy with de novo CALM2 mutation
wen zhang
xiaohui dai

wen zhang

and 6 more

August 09, 2021
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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