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Case Reports
. 2022 Nov 23:10:1012600.
doi: 10.3389/fped.2022.1012600. eCollection 2022.

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

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
Case Reports

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

Wen Zhang et al. Front Pediatr. .

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.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Fetal echocardiography at 25+1 weeks of gestation. (A) The two-dimensional ultrasound image shows increased numbers of prominent trabeculations and deep intertrabecular spaces in both ventricles (yellow arrow), especially at the left ventricular apex. The ratio of non-compaction (6 mm) to compaction (2 mm) was 3:1. (B) The color Doppler ultrasound image shows blood perfusing the intertrabecular recesses (white arrow). LA, left atrium; LV, left ventricle; RA, right atrium; RV, right ventricle.
Figure 2
Figure 2
Sanger sequencing electropherogram. The variant (c.389A > G) demonstrated the replacement of a conserved aspartic acid residue at position 130 with glycine (p.D130G) in the CALM2 gene (red arrow).
Figure 3
Figure 3
Dissected autopsy specimen. The specimen showed excessive trabeculae and deep intertrabecular recesses within the biventricular myocardium.
Figure 4
Figure 4
Histopathologic appearance of the myocardium at low magnification (hematoxylin and eosin, ×40). The images were compatible with non-compaction cardiomyopathy, with cardiomyocyte disarray in the non-compacted layer (black arrow) in opposition to regular cardiomyocytes in the compacted layer (yellow arrow).
See this image and copyright information in PMC

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