Prenatal diagnosis of tuberous sclerosis in association with rhabdomyomas: case report and discussion of the importance of molecular diagnosis

Referencias Bibliográficas

1. Dragoumi P, O'Callaghan F, Zafeiriou DI. Diagnosis of tuberous sclerosis complex in the fetus. Eur J Paediatr Neurol [Internet]. 2018;22(6):1027-34. doi:10.1016/j.ejpn.2018.08.005 [ Links ]

2. Tzani A, Doulamis I, Mylonas K, Avgerinos D, Nasioudis D. Cardiac Tumors in Pediatric Patients: A Systematic Review. World J Pediatr Congenit Hear Surg. 2017;8(5):624-32. Doi: 10.1177/2150135117723904 [ Links ]

3. Céspedes Almira Mariela, Suzarte Portal Judith, Mansito González Noel. Rabdomioma cardíaco. Rev Cubana Pediatr [Internet]. 2015;102-8. ISSN 1561-3119 [ Links ]

4. Chía N, Fuentes G, Patiño E, Guillén A, Buendía A. Importancia del rabdomioma cardiaco en población pediátrica. Experiencia de 39 años. Serie de casos. Arch Cardiol Mex. 2020;91(1):84-92. Doi: 10.24875/ACM.19000381 [ Links ]

5. Parato M, Nocco S, Alunni G, Becherini F, Conti S, Cucchini U, et al. Imaging of Cardiac Masses: An Updated Overview. J Cardiovasc Echogram. 2022;32(2):65-75. Doi: 10.4103/jcecho.jcecho_18_22 [ Links ]

6. Ramírez M, Cuenca V, Zabala J, Conejo L. Remisión completa precoz de tumoraciones cardiacas múltiples sugestivas de rabdomiomas cardiacos. Rev Esp Cardiol. 2009;62(6):708-9. Doi: https://doi.org/10.1016/S0300-8932(09)71344-2 [ Links ]

7. Yuan SM. Fetal Primary Cardiac Tumors During Perinatal Period. Pediatr Neonatol. 2017 Jun;58(3):205-10. doi: 10.1016/j.pedneo.2016.07.004 [ Links ]

8. Yamamoto K, Maki Y, Sato Y, Tanaka H, Fukushima T, Ushijima J, Furukawa S, Sameshima H, Kataoka H. Multiple cardiac rhabdomyomas not associated with tuberous sclerosis in a dizygotic twins: a case report. J Med Case Rep. 2021 Jul 5;15(1):334. doi: 10.1186/s13256-021-02943-x [ Links ]

9. Lince R, Gomez C, Arteaga A, Montoya J, Vasquez L. Rabdomioma cardiaco como manifestación de esclerosis tuberosa. Presentación de dos casos y revisión de la literatura. Rev Colomb Cardiol. 2009;16(5):224-8. ISSN 0120-5633 [ Links ]

10. Morales J, Espínola N, Caballero R, Brunner G, Uribe S. Rabdomioma cardiaco múltiple asociado a muerte intrauterina. Arch Cardiol Mex. 2011;81(3):217-20. ISSN 1405-9940 [ Links ]

11. Northrup H, Koenig M, Pearson D, Sing K. Tuberous Sclerosis Complex [Internet]. Washington; 2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1220/pdf/Book-shelf_NBK1220/Links ]

12. Wang X, Ding Y, Zhou Y, Yu L, Zhou S, Wang Y, et al. Prenatal diagnosis and intervention improve developmental outcomes and epilepsy prognosis in children with tuberous sclerosis complex. Dev Med Child Neurol. 2022;64(10):1230-6. Doi: 10.1111/dmcn.15265 [ Links ]

13. Bekiesinska-Figatowska M, Sobieraj P, Pasieczna M, Szymkiewicz-Dangel J. Early Diagnosis of Tuberous Sclerosis Complex: Prenatal Diagnosis. AJNR Am J Neuroradiol. 2023 Sep;44(9):1070-6. doi: 10.3174/ajnr.A7952 [ Links ]

14. Jin N, Wu Y, Meng Q, Luo Q. Prenatal diagnosis of tuberous sclerosis complex: Echocardiography, cranial magnetic resonance, and genetic testing of 40 cases with fetal cardiac tumors. Heliyon. 2023 Jun 2;9(6):e16980. doi: 10.1016/j.heliyon.2023.e16980 [ Links ]

15. Santana EFM, Esteves AMF, Delorenzo DG, Hygino C, Werner H, Araujo Júnior E. Tuberous Sclerosis Complex: Prenatal Diagnosis Using Ultrasound and Magnetic Resonance Imaging-A Report of Two Cases. Indian J Radiol Imaging. 2022 Nov 24;33(1):113-6. doi: 10.1055/s-0042-1758196 [ Links ]

16. Touraine R, Hauet Q, Harzallah I, Baruteau AE. Tuberous Sclerosis Complex: Genetic counselling and perinatal follow-up. Arch Pediatr. 2022 Dec;29(5S):5S3-5S7. doi: 10.1016/S0929693X(22)00283-4 [ Links ]

17. Curatolo P, Scheper M, Emberti Gialloreti L, Specchio N, Aronica E. Is tuberous sclerosis complex-associated autism a preventable and treatable disorder? World J Pediatr. 2024 Jan;20(1):40- 53. doi: 10.1007/s12519-023-00762-2 [ Links ]

18. Smialek D, Kotulska K, Duda A, Józwiak S. Effect of mTOR Inhibitors in Epilepsy Treatment in Children with Tuberous Sclerosis Complex Under 2 Years of Age. Neurol Ther. 2023;12(3):931-46. DOI: 10.1007/s40120-023-00476-7 [ Links ]

19. Yang XY, Meng Y, Wang YY, Lu YP, Wang QH, You YQ, Xie XX, Bai L, Fang N, Zou LP. Noninvasive prenatal diagnosis based on cell-free DNA for tuberous sclerosis: A pilot study. Mol Genet Genomic Med. 2022 Jul;10(7):e1952. doi: 10.1002/mgg3.1952 [ Links ]

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