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Prenatal diagnosis of feta noncompaction cardiomyopathy with de novo CALM2 mutation
  • +4
  • wen zhang,
  • xiaohui dai,
  • Hanmin Liu,
  • Lei Li,
  • Shu Zhou,
  • Qi Zhu,
  • Jiao Chen
xiaohui dai
West China Second University Hospital,West China Medcical School,Sichuan Univeisity
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Hanmin Liu
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Qi Zhu
West China Second University Hospital,West China Medcical School,Sichuan Univeisity
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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.

Peer review status:UNDER REVIEW

02 Aug 2021Submitted to Echocardiography
03 Aug 2021Assigned to Editor
03 Aug 2021Submission Checks Completed
09 Aug 2021Reviewer(s) Assigned