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Fetal cardiac tumor: echocardiography, clinical outcome and genetic analysis in 53 cases.
Ultrasound Obstet Gynecol. 2019 Jul; 54(1):103-109.UO

Abstract

OBJECTIVE

To analyze the imaging and clinical features of fetal cardiac tumors, and to explore the relationship between tuberous sclerosis complex (TSC) and cardiac rhabdomyoma in the fetus.

METHODS

Fifty-three women pregnant with a fetus affected by cardiac tumor(s) were examined by standardized fetal echocardiography (FE), and fetuses, mothers and fathers, including other relevant family members if necessary, underwent familial TSC genetic testing. Relevant pathological features, including pathological findings at clinical examination of liveborn infants and autopsy findings in terminated cases, were noted.

RESULTS

Of the 53 fetuses, 37 had multiple cardiac tumors and 16 had a single cardiac tumor detected by FE. In all 53 fetuses and their families, TSC genetic testing was successful, showing that 37 of the fetuses had a TSC1 (n = 6) or TSC2 (n = 31) pathogenic or suspected pathogenic mutation, of which 25 were spontaneous and 12 were familial mutations. The proportion of single and multiple cardiac tumors at FE was significantly different between the group of fetuses with positive genetic test results and that with negative results for TSC (31% and 86%, respectively), although the presence of multiple or single tumors was not associated with the type of TSC mutation. The decision to terminate the pregnancy was made by 45 women and their families, and eight fetuses were liveborn. Autopsy was performed in 38 fetuses, which revealed 36 cases with pathologically confirmed cardiac rhabdomyoma, one case of hemangioma and one case of fibroma. 93% of fetuses with multiple rhabdomyomas at autopsy and 71% of those with a single cardiac rhabdomyoma harbored a TSC1 or TSC2 mutation.

CONCLUSION

Cardiac rhabdomyoma is the most common cardiac tumor in the fetus. The correlation between cardiac rhabdomyoma and TSC is strong regardless of the presence of single or multiple tumors. For fetuses with suspected cardiac rhabdomyoma identified by FE, prenatal genetic testing for TSC of both fetus and family members is recommended. A positive genetic diagnosis can help in counseling and planning for neonatal treatment. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.

Authors+Show Affiliations

Maternal-Fetal Consultation Center of Congenital Heart Disease, Department of Echocardiography, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.College of Life Science, Tsinghua University, Beijing, China.Maternal-Fetal Consultation Center of Congenital Heart Disease, Department of Echocardiography, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.Maternal-Fetal Consultation Center of Congenital Heart Disease, Department of Echocardiography, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.Maternal-Fetal Consultation Center of Congenital Heart Disease, Department of Echocardiography, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.Maternal-Fetal Consultation Center of Congenital Heart Disease, Department of Echocardiography, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.Maternal-Fetal Consultation Center of Congenital Heart Disease, Department of Echocardiography, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.Maternal-Fetal Consultation Center of Congenital Heart Disease, Department of Echocardiography, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.Department of Cardiac Surgery, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.Department of Pediatrics, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.Maternal-Fetal Consultation Center of Congenital Heart Disease, Department of Echocardiography, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

29877000

Citation

Chen, J, et al. "Fetal Cardiac Tumor: Echocardiography, Clinical Outcome and Genetic Analysis in 53 Cases." Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, vol. 54, no. 1, 2019, pp. 103-109.
Chen J, Wang J, Sun H, et al. Fetal cardiac tumor: echocardiography, clinical outcome and genetic analysis in 53 cases. Ultrasound Obstet Gynecol. 2019;54(1):103-109.
Chen, J., Wang, J., Sun, H., Gu, X., Hao, X., Fu, Y., Zhang, Y., Liu, X., Zhang, H., Han, L., & He, Y. (2019). Fetal cardiac tumor: echocardiography, clinical outcome and genetic analysis in 53 cases. Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 54(1), 103-109. https://doi.org/10.1002/uog.19108
Chen J, et al. Fetal Cardiac Tumor: Echocardiography, Clinical Outcome and Genetic Analysis in 53 Cases. Ultrasound Obstet Gynecol. 2019;54(1):103-109. PubMed PMID: 29877000.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fetal cardiac tumor: echocardiography, clinical outcome and genetic analysis in 53 cases. AU - Chen,J, AU - Wang,J, AU - Sun,H, AU - Gu,X, AU - Hao,X, AU - Fu,Y, AU - Zhang,Y, AU - Liu,X, AU - Zhang,H, AU - Han,L, AU - He,Y, Y1 - 2019/06/12/ PY - 2018/04/09/received PY - 2018/05/26/revised PY - 2018/05/30/accepted PY - 2018/6/8/pubmed PY - 2020/1/28/medline PY - 2018/6/8/entrez KW - cardiac tumor KW - fetal echocardiography KW - fetus KW - gene KW - tuberous sclerosis complex SP - 103 EP - 109 JF - Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology JO - Ultrasound Obstet Gynecol VL - 54 IS - 1 N2 - OBJECTIVE: To analyze the imaging and clinical features of fetal cardiac tumors, and to explore the relationship between tuberous sclerosis complex (TSC) and cardiac rhabdomyoma in the fetus. METHODS: Fifty-three women pregnant with a fetus affected by cardiac tumor(s) were examined by standardized fetal echocardiography (FE), and fetuses, mothers and fathers, including other relevant family members if necessary, underwent familial TSC genetic testing. Relevant pathological features, including pathological findings at clinical examination of liveborn infants and autopsy findings in terminated cases, were noted. RESULTS: Of the 53 fetuses, 37 had multiple cardiac tumors and 16 had a single cardiac tumor detected by FE. In all 53 fetuses and their families, TSC genetic testing was successful, showing that 37 of the fetuses had a TSC1 (n = 6) or TSC2 (n = 31) pathogenic or suspected pathogenic mutation, of which 25 were spontaneous and 12 were familial mutations. The proportion of single and multiple cardiac tumors at FE was significantly different between the group of fetuses with positive genetic test results and that with negative results for TSC (31% and 86%, respectively), although the presence of multiple or single tumors was not associated with the type of TSC mutation. The decision to terminate the pregnancy was made by 45 women and their families, and eight fetuses were liveborn. Autopsy was performed in 38 fetuses, which revealed 36 cases with pathologically confirmed cardiac rhabdomyoma, one case of hemangioma and one case of fibroma. 93% of fetuses with multiple rhabdomyomas at autopsy and 71% of those with a single cardiac rhabdomyoma harbored a TSC1 or TSC2 mutation. CONCLUSION: Cardiac rhabdomyoma is the most common cardiac tumor in the fetus. The correlation between cardiac rhabdomyoma and TSC is strong regardless of the presence of single or multiple tumors. For fetuses with suspected cardiac rhabdomyoma identified by FE, prenatal genetic testing for TSC of both fetus and family members is recommended. A positive genetic diagnosis can help in counseling and planning for neonatal treatment. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd. SN - 1469-0705 UR - https://www.unboundmedicine.com/medline/citation/29877000/Fetal_cardiac_tumor:_echocardiography_clinical_outcome_and_genetic_analysis_in_53_cases_ L2 - https://doi.org/10.1002/uog.19108 DB - PRIME DP - Unbound Medicine ER -