PMC6537215_01
Color Doppler ultrasound imaging. a on November 3, 2017 (23 + 4 weeks of gestation), color Doppler ultrasound imaging showed a hyperechogenic mass in the fetal left ventricle, measuring 1.8 cm x 1.57 cm, broadening of the left lateral ventricle (1.11 cm) and a strong dot-like echo in the left ventricle; b on December 7, 2017, color Doppler ultrasound reexaminations displayed multiple strong echoes in the fetal left ventricle (measuring 3.3 cm x 2.03 cm), compression of the left ventricular outflow tract, obvious enlargement of the tumor, and a 0.92 cm internal diameter of posterior horn of the left lateral ventricle
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Fig1
Color Doppler ultrasound imaging showed a hyperechogenic mass in the fetal left ventricle, measuring 1.8 cm x 1.57 cm, broadening of the left lateral ventricle (1.11 cm) and a strong dot-like echo in the left ventricle (Fig. 1a), and cardiac rhabdomyoma was suspected. At a gestational age of 28 + 3 weeks (December 7, 2017), color Doppler ultrasound reexaminations displayed multiple strong echoes in the fetal left ventricle (measuring 3.3 cm x 2.03 cm), compression of the left ventricular outflow tract, obvious enlargement of the tumor, and a 0.92 cm internal diameter of posterior horn of the left lateral ventricle (Fig. 1b).
Chromosomal microarray analysis detects a 1.8 Mb-duplication of the chromosome 15q13.2q13.3 region containing 7 genes, which occurs in the region between BP4-BP5 on chromosome 15q13.3
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Fig2
G-banding karyotype analysis and CMA with the BioChip Detection System of Affymetrix GeneChip following the manufacturer's instructions (Zhejiang Biosan Biochemical Technologies Co., Ltd.; Hangzhou, China). G-banding analysis revealed a 46, XY karyotype, with no abnormal karyotype detected, and CMA detected a 1.8 Mb-duplication of the chromosome 15q13.2q13.3 region (arr [hg19] 15q13.2q13.3(31,073,668-32,920,694)x 3) containing 7 genes (TRPM1, KLF13, OTUD7A, CHRNA7, FAN1, MIR211 and RAHGAP11A), which occurred in the region between BP4-BP5 on chromosome 15q13.3 (Fig. 2).
Color Doppler ultrasound and fetal brain magnetic resonance imaging examinations. a and b On January 25, 2018 (35 + 2 weeks of gestation), color Doppler ultrasound reexaminations of the fetal heart display multiple hyperechogenic masses (measuring 4.35 cm x 3.13 cm) in the fetal left ventricle, abnormal morphology of anterior horn of the left lateral ventricle with broadening of the internal diameter (2.02 cm); c and d on January 15, 2018 (34 weeks of gestation), fetal brain magnetic resonance imaging reveals abnormal morphology of the left frontal lobe with irregular extension of anterior horn of the left ventricle
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Fig3
On January 15, 2018 (34 weeks of gestation), fetal brain magnetic resonance imaging (MRI) in Fujian Provincial Maternity and Children's Hospital (Fuzhou, China) revealed abnormal morphology of the left frontal lobe with irregular extension of anterior horn of the left ventricle (Fig. 3c and d). On January 25, 2018 (35 + 2 weeks of gestation), color Doppler ultrasound reexaminations of the fetal heart displayed multiple hyperechogenic masses (measuring 4.35 cm x 3.13 cm) in the fetal left ventricle, abnormal morphology of anterior horn of the left lateral ventricle with broadening of the internal diameter (2.02 cm) (Fig. 3a and b), indicating a high likelihood of cardiac rhabdomyoma.
Anatomical and histological findings. a anatomical findings show a solid space-occupying lesion in the fetal left ventricle (approximately 4 cm x 3 cm); b, c and d histology of the fetal heart specimen reveals typical spider-shaped cells, which are consisted of abundant glycogen-rich cytoplasm and cytofilaments that are extended and radiated to pericellular regions, and pathologic examinations confirm that the solid space-occupying lesion in the fetal left ventricle is cardiac rhabdomyoma
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Fig4
Anatomical findings showed a solid space-occupying lesion in the fetal left ventricle (approximately 4 cm x 3 cm) (Fig. 4a). Histology of the fetal heart specimen revealed typical spider-shaped cells, which were consisted of abundant glycogen-rich cytoplasm and cytofilaments that were extended and radiated to pericellular regions, and pathologic examinations confirmed that the solid space-occupying lesion in the fetal left ventricle was cardiac rhabdomyoma (Fig. 4b, c and d).