AUTHOR=Zhang Wen , Dai Xiaohui , Liu Hanmin , Li Lei , Zhou Shu , Zhu Qi , Chen Jiao 

TITLE=Case report: Prenatal diagnosis of fetal non-compaction cardiomyopathy with bradycardia accompanied by de novo CALM2 mutation

JOURNAL=Frontiers in Pediatrics

VOLUME=10

YEAR=2022

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2022.1012600

DOI=10.3389/fped.2022.1012600

ISSN=2296-2360

ABSTRACT=<p>We herein report what appears to be the first case of fetal non-compaction cardiomyopathy in both ventricles accompanied by a mutation in the calmodulin gene (<italic>CALM2</italic>). A 25-year-old woman was referred to our hospital at 25<sup>+1</sup> weeks of gestation for evaluation of fetal defects. Prenatal echocardiography showed biventricular non-compaction cardiomyopathy with sinus bradycardia. After termination of the pregnancy, fetal biventricular non-compaction cardiomyopathy was confirmed by autopsy and histopathologic examination. Additionally, whole-exome sequencing of genomic DNA demonstrated a <italic>de novo</italic> heterozygous mutation (c.389A &gt; G; p.D130G) in <italic>CALM2</italic>, whereas the parents were normal. In this case report, we highlight the importance of prenatal ultrasound and genetic testing in fetal non-compaction cardiomyopathy with arrhythmia.</p>