loading page

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
wen zhang

Corresponding Author:[email protected]

Author Profile
xiaohui dai
West China Second University Hospital,West China Medcical School,Sichuan Univeisity
Author Profile
Hanmin Liu
Author Profile
Qi Zhu
West China Second University Hospital,West China Medcical School,Sichuan Univeisity
Author Profile

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.