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

Wen Zhang; Wen Zhang; Xiaohui Dai; Xiaohui Dai; Hanmin Liu; Hanmin Liu; Lei Li; Lei Li; Shu Zhou; Shu Zhou; Qi Zhu; Qi Zhu; Jiao Chen; Jiao Chen

doi:10.3389/fped.2022.1012600

Frontiers in Pediatrics (Nov 2022)

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

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

Affiliations

Wen Zhang: Department of Ultrasonic Medicine, West China Second University Hospital of Sichuan University, Chengdu, China
Wen Zhang: Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China
Xiaohui Dai: Department of Ultrasonic Medicine, West China Second University Hospital of Sichuan University, Chengdu, China
Xiaohui Dai: Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China
Hanmin Liu: Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China
Hanmin Liu: Department of Pediatrics, West China Second University Hospital of Sichuan University, Chengdu, China
Lei Li: Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China
Lei Li: Department of Pathology, West China Second University Hospital of Sichuan University, Chengdu, China
Shu Zhou: Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China
Shu Zhou: Department of Obstetrics, West China Second University Hospital of Sichuan University, Chengdu, China
Qi Zhu: Department of Ultrasonic Medicine, West China Second University Hospital of Sichuan University, Chengdu, China
Qi Zhu: Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China
Jiao Chen: Department of Ultrasonic Medicine, West China Second University Hospital of Sichuan University, Chengdu, China
Jiao Chen: Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China

DOI: https://doi.org/10.3389/fped.2022.1012600
Journal volume & issue: Vol. 10

Abstract

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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 (CALM2). A 25-year-old woman was referred to our hospital at 25+1 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 de novo heterozygous mutation (c.389A > G; p.D130G) in CALM2, 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.

Published in Frontiers in Pediatrics

ISSN: 2296-2360 (Online)
Publisher: Frontiers Media S.A.
Country of publisher: Switzerland
LCC subjects: Medicine: Pediatrics
Website: http://journal.frontiersin.org/journal/pediatrics

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