Skip to main content Accessibility help
×
Home
Hostname: page-component-544b6db54f-fg2fv Total loading time: 0.21 Render date: 2021-10-20T20:44:57.819Z Has data issue: true Feature Flags: { "shouldUseShareProductTool": true, "shouldUseHypothesis": true, "isUnsiloEnabled": true, "metricsAbstractViews": false, "figures": true, "newCiteModal": false, "newCitedByModal": true, "newEcommerce": true, "newUsageEvents": true }

Giant left ventricular rhabdomyoma treated successfully with everolimus: case report and review of literature

Published online by Cambridge University Press:  15 May 2018

Alfonso Martínez-García*
Affiliation:
Fetal and Pediatric Cardiology, Instituto Nacional de Perinatología Isidro Espinosa de los Reyes, Mexico City, Mexico
Carolina Michel-Macías
Affiliation:
Neonatal Intensive Care Unit, Instituto Nacional de Perinatología Isidro Espinosa de los Reyes, Mexico City, Mexico
Guadalupe Cordero-González
Affiliation:
Neonatal Intensive Care Unit, Instituto Nacional de Perinatología Isidro Espinosa de los Reyes, Mexico City, Mexico
Karla I. Escamilla-Sánchez
Affiliation:
Neonatal Intensive Care Unit, Instituto Nacional de Perinatología Isidro Espinosa de los Reyes, Mexico City, Mexico
Mónica Aguinaga-Ríos
Affiliation:
Perinatal Genetics, Instituto Nacional de Perinatología Isidro Espinosa de los Reyes, Mexico City, Mexico
Alejandra Coronado-Zarco
Affiliation:
Neonatal Intensive Care Unit, Instituto Nacional de Perinatología Isidro Espinosa de los Reyes, Mexico City, Mexico
Jorge A. Cardona-Pérez
Affiliation:
Neonatal Intensive Care Unit, Instituto Nacional de Perinatología Isidro Espinosa de los Reyes, Mexico City, Mexico
*
Author for correspondence: A. Martínez-García, MD, Fetal and Pediatric Cardiology, Instituto Nacional de Perinatología Isidro Espinosa de los Reyes, Calle Montes Urales 800, Lomas – Virreyes, Lomas de Chapultepec IV Secc, 11000 Ciudad de México, México. Tel: +52 1 55 1340 6716; Fax: 55400942; E-mail: alfonso.martinez@inper.gob.mx

Abstract

Introduction

Intracardiac rhabdomyomas can cause severe ventricular dysfunction and outflow tract obstruction.

Case report

A term newborn infant with antenatal diagnosis of giant left ventricle rhabdomyoma presented with cardiac failure and duct-dependent systemic circulation after birth. She was treated successfully with everolimus, showing decrease in tumour size and improvement in left ventricular ejection fraction.

Discussion

Tumour regression rate was 0.32 cm2/day and improved to 0.80 cm2/day with the use of everolimus. Herein we report a newborn with inoperable giant left ventricular cardiac rhabdomyoma and significant regression of the tumour. To our knowledge, this is the largest left ventricular rhabdomyoma reported. A review of the literature was undertaken for comparison.

Conclusion

Everolimus has proven to be efficacious in size reduction of cardiac rhabdomyomas in cases when surgical resection is not possible.

Type
Review Articles
Copyright
© Cambridge University Press 2018 

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

1. Hoshal, SG, Samuel, BP, Schneider, JR, Mammen, L, Vettukattil, JJ. Regression of massive cardiac rhabdomyoma on everolimus therapy. Pediatr Int 2016; 58: 397399.CrossRefGoogle ScholarPubMed
2. Bornaun, H, Oztarhan, K, Erener-Ercan, T, et al. Regression of cardiac rhabdomyomas in a neonate after everolimus treatment. Case Rep Pediatr 2016; 2016: 8712962.Google Scholar
3. Shi, L, Wu, L, Fang, H, et al. Identification and clinical course of 166 pediatric cardiac tumors. Eur J Pediatr 2017; 176: 253260.CrossRefGoogle ScholarPubMed
4. Miczoch, E, Hanslik, A, Luckner, D, Kitzmuller, E, Prayer, D, Michel-Behnke, I. Prenatal diagnosis of giant cardiac rhabdomyoma in tuberous sclerosis complex: a new therapeutic option with everolimus. Ultrasound Obstet Gynecol 2015; 45: 618621.CrossRefGoogle Scholar
5. Goldblum, JR, Weiss, SW, Folpe, AL. Enzinger and Weiss’s Soft Tissue Tumors, 6th edn. Elsevier Saunders, Canada.Google Scholar
6. Aw, F, Goyer, I, Raboisson, MJ, Boutin, C, Major, P, Dahdah, N. Accelerated cardiac rhabdomyoma regression with everolimus in infants with tuberous sclerosis complex. Pediatr Cardiol 2017; 38: 394400.CrossRefGoogle ScholarPubMed
7. Tiberio, D, Franz, DN, Phillips, JR.. Regression of a cardiac rhabdomyoma in a patient receiving everolimus. Pediatrics 2011; 127: e1335e1337.CrossRefGoogle Scholar
8. Goyer, I, Dahdah, N, Major, P. Use of mTOR inhibitor everolimus in three neonates for treatment of tumors associated with tuberous sclerosis complex. Pediatr Neurol 2015; 52: 450453.CrossRefGoogle ScholarPubMed
9. Dogan, V, Yesil, S, Kayali, S, et al. Regression of symptomatic multiple cardiac rhabdomyomas associated with tuberous sclerosis complex in a newborn receiving everolimus. J Trop Pediatr 2015; 61: 7477.Google Scholar
10. Kotulska, K, Larysz-Brysz, M, Grajkowska, W, et al. Cardiac rhabdomyomas in tuberous sclerosis complex show apoptosis regulation and mTOR pathway abnormalities. Pediatr Dev Pathol 2009; 12: 8995.CrossRefGoogle ScholarPubMed
11. Demir, HA, Ekici, F, Yazal Erdem, A, Emir, S, Tunc, B. Everolimus: a challenging drug in the treatment of multifocal inoperable cardiac rhabdomyoma. Pediatrics 2012; 130: e243e247.CrossRefGoogle ScholarPubMed
12. Breathnach, C, Pears, J, Franklin, O, Webb, D, McMahon, CJ. Rapid regression of left ventricular outflow tract rhabdomyoma after sirolimus therapy. Pediatrics 2014; 134: e1e4.CrossRefGoogle ScholarPubMed
13. Wagner, R, Riede, FT, Seki, H, et al. Oral everolimus for treatment of a giant left ventricular rhabdomyoma in a neonate-rapid tumor regression documented by real time 3D echocardiography. Echocardiography 2015; 32: 18761879.CrossRefGoogle Scholar
14. Oztunc, F, Atik, SU, Gunes, AO. Everolimus treatment of a newborn with rhabdomyoma causing severe arrhythmia. Cardiol Young 2015; 25: 14111414.CrossRefGoogle ScholarPubMed
15. Choudhry, S, Nguyen, HH, Anwar, S. Rapid resolution of cardiac rhabdomyomas following everolimus therapy. BMJ Case Rep 2015; 2015: 14.Google ScholarPubMed
16. Colaneri, M, Quarti, A, Pozzi, M. Everolimus-induced near-resolution of giant cardiac rhabdomyomas and large renal angiomyolipoma in a newborn with tuberous sclerosis complex. Cardiol Young 2016; 26: 10251028.CrossRefGoogle Scholar
17. Shigemitsu, Y, Baba, K, Kondo, M, et al. Regression of massive cardiac rhabdomyoma causing circulatory collapse with everolimus therapy. Pediatr Cardiol Cardiac Surg 2016; 32: 439444.CrossRefGoogle Scholar
18. Kayali, S, Dogan, V, Arda, NL, et al. Symptomatic fetal-type cardiac rhabdomyoma. J Coll Physicians Surg Pak 2017; 27: S53S55.Google ScholarPubMed
19. Weiland, DM, Bonello, K, Hill, KD. Rapid regression of large cardiac rhabdomyomas in neonates after sirolimus therapy. Cardiol Young 2018; 28: 485489.CrossRefGoogle ScholarPubMed
20. Lee, SJ, Song, ES, Cho, HJ, Choi, YY, Ma, JS, Cho, YK. Rapid regression of obstructive cardiac rhabdomyoma in a preterm neonate after sirolimus therapy. Biomed Hub 2017; 2: 460813.CrossRefGoogle Scholar
21. Chang, JS, Chiou, PY, Yao, SH, Chou, IC, Lin, CY. Regression of neonatal cardiac rhabdomyom in two months through low-dose everolimus therapy: a report of three cases. Pediatr Cardiol 2017; 38: 14781484.CrossRefGoogle Scholar
22. MacKeigan, JP, Krueger, DA. Differentiating the mTOR inhibitors everolimus and sirolimus in the treatment of tuberous sclerosis complex. Neuro Oncol 2015; 17: 15501559.CrossRefGoogle ScholarPubMed
23. Emoto, C, Fukuda, T, Mizuno, T, et al. Characterizing the developmental trajectory of sirolimus clearance in neonates and infants. CPT Pharmacometrics Syst Pharmacol 2016: 411417.CrossRefGoogle ScholarPubMed
24. Yuan, SM. Fetal primary cardiac tumors during perinatal period. Pediatr Neonatol 2017; 58: 205210.CrossRefGoogle ScholarPubMed
25. Sciacca, P, Giacchi, V, Mattia, C, et al. Rhabdomyomas and tuberous sclerosis complex: our experience in 33 cases. BMC Cardiovasc Disord 2014; 14: 66.CrossRefGoogle ScholarPubMed

Martínez-García et al. supplementary material 1

Supplementary Video

Download Martínez-García et al. supplementary material 1(Video)
Video 6 MB

Martínez-García et al. supplementary material 2

Supplementary Video

Download Martínez-García et al. supplementary material 2(Video)
Video 6 MB
11
Cited by

Send article to Kindle

To send this article to your Kindle, first ensure no-reply@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about sending to your Kindle. Find out more about sending to your Kindle.

Note you can select to send to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be sent to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Giant left ventricular rhabdomyoma treated successfully with everolimus: case report and review of literature
Available formats
×

Send article to Dropbox

To send this article to your Dropbox account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Dropbox.

Giant left ventricular rhabdomyoma treated successfully with everolimus: case report and review of literature
Available formats
×

Send article to Google Drive

To send this article to your Google Drive account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Google Drive.

Giant left ventricular rhabdomyoma treated successfully with everolimus: case report and review of literature
Available formats
×
×

Reply to: Submit a response

Please enter your response.

Your details

Please enter a valid email address.

Conflicting interests

Do you have any conflicting interests? *