PMC9727144_01
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.
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F1
The ratio of non-compacted to compacted myocardium (N/C ratio) in the left and right ventricle was 3 and 2, respectively (Figure 1A). Color Doppler revealed blood perfusion to the intertrabecular recesses (Figure 1B).
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).
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F2
At autopsy, the biventricular wall contained increased numbers of prominent trabeculae and deep intertrabecular recesses (Figure 2).
Dissected autopsy specimen. The specimen showed excessive trabeculae and deep intertrabecular recesses within the biventricular myocardium.
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F3
Histopathologic examination confirmed fetal NCCM (Figure 3).
Histopathologic appearance of the myocardium at low magnification (hematoxylin and eosin, x40). 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).
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F4
D130G) in CALM2 (Figure 4).