Prenatal diagnosis of Fetal Cardiac Rhabdomyoma associated with Familial Tuberous Sclerosis

Authors

DOI:

https://doi.org/10.59471/ijhsc2024183

Keywords:

Fetal cardiac rhabdomyoma, Tuberous sclerosis, Transposition of great vessels, Prenatal diagnosis

Abstract

Introduction: Of the fetal heart tumors, the most common are rhabdomyomas. Its prevalence is based on 11,000 autopsies performed on children and is 0.027%.1 Its diagnosis in the prenatal stage is a challenge, however, it has been reported in the second and third trimesters of gestation.
Clinical case: 19-year-old female patient with a history of presenting with lipothymia at 2 years of age. Given these manifestations, she underwent different studies, including Cranial Magnetic Resonance (MRI), which concluded as a diagnosis of Tuberous Sclerosis. In its current state of gestation, at week 33, a finding is seen that corresponds to unilateral pulmonary agenesis; at 35 weeks, liver and kidney ultrasounds are performed on the mother and fetal ultrasound. Serial ultrasound findings revealed maternal hepatic and renal hemangiolipoma. Fetal biventicular rhabdomyoma with probable transposition of the great vessels and pulmonary artery stenosis.
Discussion: Rhabdomyomas are the most common fetal cardiac tumors. In our clinical case, the pregnant woman had a history of Bourneville Tuberous Sclerosis. The definitive diagnosis of maternal pathologies was made in the 3rd trimester. It was complicated to manage due to suspicion of additional heart disease of the Classical Transposition of the Great Vessels type, evidenced by imaging studies. He was subsequently referred to a more complex center for better follow-up and definitive treatment.
Conclusions: Fetal rhabdomyoma diagnosed prenatally is complex, requiring serial imaging studies and multidisciplinary follow-up. It is important to monitor the hemodynamic status and any cardiovascular repercussions of the pregnant woman. In addition, fetal structures including the central nervous system, heart and renal parenchyma must be carefully evaluated to avoid significant sequelae in those affected.

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References

Mary T. Donofrio, Gerard R. Martin F. Fetal cardiac tumors. En: Simcha Yagel, Norma H. Silverman, Ulrich Gembruch, editores. Fetal Cardiology. segunda edición Nueva York: Informa Healthcare; 2009. p. 401---12. Available at: https://www.taylorfrancis.com/chapters/edit/10.3109/9781439807989-32/fetal-cardiac-tumors

Kamil D, Tepelmann J, Berg C, Heep A, Axt-Flindner R, Gembruch U, et al. Spectrum and outcome of prenatally diagnosed fetal tumors. Ultrasound Obstet Gynecol. 2008;31:296---302. https://doi.org/10.1002/uog.5260

Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med. 2006 Sep 28;355(13):1345-56. Available at: https://doi.org/10.1056/nejmra055323.

Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet. 2008;372(9639):657-668. Available at: https://doi.org/10.1016/S0140-6736(08)61279-9.

Fesslova VM , Villa L ; Rizzuti T , Tomasso R , Mastrangello M , Mosca F. Natural history and log term outcome of cardiac rhabdomyomas detected prenatally. Prenatal Diagnosis 2004; 24 (4) : 241-248.

Galindo A, Gratacos E, Martínez JM editores. Cardiología fetal. Madrid : Marban. 2015 ; p 423-424

Gómez López Enrique. Diagnóstico prenatal de rabdomioma fetal asociado a esclerosis tuberosa. A propósito de un caso. Rev. chil. obstet. ginecol. [Internet]. 2017 Jun [citado 2024 Mar 29] ; 82( 3 ): 313-321. Disponible en: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-75262017000300313&lng=es. http://dx.doi.org/10.4067/s0717-75262017000300313.

Garg R, Thakkar B, Oswal N. A rare case report of corrected transposition of the great arteries in association with tuberous sclerosis and cardiac rhabdomyomas. Cardiol Young. 2014 Oct;24(5):955-7. Available at: https://doi.org/10.1017/S1047951113002047.

Jiang ZY, Pircova A, Sekarski N, Hack I, Laurini R, Janzer R, Payot M. Transposition of the great arteries, pulmonary atresia, and multiple ventricular septal defects associated with multiple cardiac rhabdomyomas in a case of tuberous sclerosis. Pediatr Cardiol. 2000 Mar-Apr;21(2):165-9. doi: 10.1007/s002469910029. PMID: 10754091. Available at: https://pubmed.ncbi.nlm.nih.gov/10754091/.

Raut NB, Norton JB, Patil AA. Bourneville's tuberous sclerosis associated with double outlet right ventricle and infundibular pulmonary stenosis. J Assoc Physicians India. 1992 Jul;40(7):469-70. PMID: 1484031. Available at: https://pubmed.ncbi.nlm.nih.gov/1484031/.

Fitzpatrick TB, Szabó G, Hori Y, Simone AA, Reed WB, Greenberg MH. White Leaf-Shaped Macules: Earliest Visible Sign of Tuberous Sclerosis. Arch Dermatol. 1968;98(1):1–6. Available at: https://doi:10.1001/archderm.1968.01610130007001.

Teplick JG. Tuberous sclerosis. Extensive roentgen findings without the usual clinical picture: a case report. Radiology. 1969 Jul;93(1):53-5. Available at: https://doi.org/10.1148/23.1.53.

Salido-Vallejo R, Garnacho-Saucedo G, Moreno-Giménez JC. Current options for the treatment of facial angiofibromas. Actas Dermo-Sifiliográficas (English Edition). 2014;105(6):558-568. Available at: https://doi.org/10.1016/j.adengl.2014.05.001.

Anderson DE, Tannen RL. Tuberous sclerosis and chronic renal failure: potential confusion with polycystic kidney disease. Am J Med. 1969;47:163-168. Available at: https://doi.org/10.1016/0002-9343(69)90250-2

Marshall D, Saul GB, Sachs E Jr. Tuberous sclerosis: a report of 16 cases in two family trees revealing genetic dominance. N Engl J Med. 1959 Nov 26;261:1102-5. Available at: https://doi.org/10.1056/NEJM195911262612203.

De León GA, Zaeri N, Foley CM. Olfactory hamartomas in tuberous sclerosis. J Neurol Sci. 1988 Nov;87(2-3):187-94. Available at: https://doi.org/10.1016/0022-510X(88)90244-4.

Freycon F, Mollard P, Hermier M, Guibaud P, Chazalette JP, Weill B, Flattot M, Jeune M. Anévrysme de l'aorte abdomonale au cours d'une sclérose tubŕeuse de Bourneville [Abdominal aorta aneurysm during Bourneville's tuberous sclerosis]. Pediatrie. 1971 Jun;26(4):421-7. French. Available at: https://pubmed.ncbi.nlm.nih.gov/5568950/.

Larbre F, Loire R, Guibaud P, Lauras B, Weill B. Observation clinique et anatomique d'un anévrysme de l'aorte au cours d'une sclérose tubéreuse de Bourneville [Clinical and anatomical case of an aortic aneurysm in the course of Bourneville's tuberous sclerosis]. Arch Fr Pediatr. 1971 Nov;28(9):975-84. French. Available at: https://pubmed.ncbi.nlm.nih.gov/5144697/.

Harding CO, Pagon RA. Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma. Am J Med Genet. 1990 Dec;37(4):443-6. Available at: https://doi.org/10.1002/ajmg.1320370402.

Journel H, Roussey M, Plais MH, Milon J, Almange C, Le Marec B. Prenatal diagnosis of familial tuberous sclerosis following detection of cardiac rhabdomyoma by ultrasound. Prenat Diagn. 1986 Jul-Aug;6(4):283-9. Available at: https://pubmed.ncbi.nlm.nih.gov/3529075/

Bosi G, Lintermans JP, Pellegrino PA, Svaluto-Moreolo G, Vliers A. The natural history of cardiac rhabdomyoma with and without tuberous sclerosis. Acta Paediatr. 1996 Aug;85(8):928-31. Available at: https://doi.org/10.1111/j.1651-2227.1996.tb14188.x.

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Published

2024-02-23

How to Cite

1.
Pestañas León AR, Aguirre-Cruz B, Sosa-Palaviccini MO, Auza-Santivañez JC, Apaza-Huanca B, Márquez Molina J, Díaz Lara Y. Prenatal diagnosis of Fetal Cardiac Rhabdomyoma associated with Familial Tuberous Sclerosis. Interamerican Journal of Health Sciences [Internet]. 2024 Feb. 23 [cited 2024 Jul. 21];4:183. Available from: https://ijhsc.com/journal/article/view/183

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Clinical Cases and Case series

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