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

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

doi:10.3389/fped.2022.1012600

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

Front Pediatr. 2022 Nov 23:10:1012600. doi: 10.3389/fped.2022.1012600. eCollection 2022.

Authors

Wen Zhang^{1

2}, Xiaohui Dai^{1

2}, Hanmin Liu^{2

3}, Lei Li^{2

4}, Shu Zhou^{2

5}, Qi Zhu^{1

2}, Jiao Chen^{1

2}

Affiliations

¹ Department of Ultrasonic Medicine, West China Second University Hospital of Sichuan University, Chengdu, China.
² Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China.
³ Department of Pediatrics, West China Second University Hospital of Sichuan University, Chengdu, China.
⁴ Department of Pathology, West China Second University Hospital of Sichuan University, Chengdu, China.
⁵ Department of Obstetrics, West China Second University Hospital of Sichuan University, Chengdu, China.

Abstract

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.

Keywords: CALM2 mutation; bradycardia; non-compaction cardiomyopathy; prenatal; ultrasound.

Publication types

Case Reports