Isolated Asymptomatic Fetal Intracardiac Mass: A Case of Rhabdomyoma

Abstract

Introduction: Fetal cardiac rhabdomyoma is one of the rare benign cardiac masses which is commonly associated with the tuberous sclerosis complex (TSC). Though mostly fetal cardiac rhabdomyoma is asymptomatic it may lead to life-threatening conditions like outflow obstruction, arrhythmias, hydrops fetalis, or sudden fetal death.

Case Report: We are reporting an isolated, asymptomatic fetal intra-cardiac mass (rhabdomyoma) that was discovered at 32 weeks of gestation and was followed as an outpatient until 39 weeks plus one day, at which point a cesarean section was performed. After delivery, the child underwent evaluations at the 1^st day, 7^th day, 30^th day, 7^th month, and 12^th month of age. Following a checkup, the child’s anthropometric and neurobehavioral growth were both healthy. Except for the tumor, which was neither growing nor shrinking in size, none of the clinical diagnostic criteria for tuberous sclerosis complex were met for this child up to the age of one year.

Conclusion: The most common primary benign fetal cardiac tumor is cardiac rhabdomyoma, which is usually associated with tuberous sclerosis. In developing nations where it is challenging to obtain MRIs and genetic studies, and in a similar patient like ours with no other features of tuberous sclerosis, the child needs to be followed in the future, bearing in mind that tuberous sclerosis manifestations will continue to develop over a patient’s lifetime.

Introduction

Rhabdomyomas are the most frequently detected fetal cardiac tumor and are found within the ventricular cavities, ventricular wall and septum. Sonographic features of fetal cardiac rhabdomyomas include: multiple (in 90% of the cases, while single in 10% of them), well-circumscribed, rounded, homogenous, and non-encapsulated white or gray-white intramural or intracavitary nodules. Though in most of the cases fetal cardiac rhabdomyomas are asymptomatic, the symptoms depend on the number, size, and site of the tumor. When it is symptomatic it may cause inflow/out flow obstruction of the ventricles, arrhythmia, hydrops fetalis, cardiac failure and sudden fetal death. In more than 80% of the cases fetal cardiac rhabdomyoma is associated with the multisystem, autosomal dominant neurocutaneous disorder called Tuberous sclerosis complex. In a fetus who has cardiac rhabdomyoma; searching for other feature of tuberous sclerosis is mandatory with detailed anatomical sonography, fetal MRI, family history of tuberous sclerosis and genetic test. Though the tumor regresses usually if it persists; treatment of the cardiac rhabdomyoma depends on the symptom. Options of treatments can be medical with the sirolimus or everolimus or it can be surgical excision of the tumor.^1–7

Case Description

A 29-year-old gravida V par IV (all alive, 3 spontaneous vaginal deliveries, and the last child was delivered by cesarean section for the indication of a failed induction 4 years prior to the current pregnancy) came for ANC follow-up at a gestational age of 32 weeks from her LNMP.

After taking a medical history, it was discovered that all four of her children are healthy, doing well in school, and have no known history of genetic or seizure disorders. She was investigated with the Venereal Disease Research Laboratory (VDRL), Hepatitis B surface antigen (HBSag), and urine analysis, all of which were negative. All cell lines in the CBC were normal, her blood group is A, and Rh is positive, according to the Complete Blood Count (CBC), blood group, and RH. Obstetric ultrasound was also performed showing normal anatomical scan of the all body parts of the fetus except the heart. Detailed fetal echocardiography evaluation was done with findings of: both atria have comparable size and normal situs. Both atrioventricular and semilunar valves are normally positioned with normal opening and closure. Both ventricles are comparable in size and contractility; in both 2D and color flow, the left ventricle forms the apex of the heart without any ventricular septal defect. But on the papillary muscles of the left ventricle there were two circumscribed, round, echogenic mass measuring 18.2 mm by 8.3mm and 13.5mm by 8.3 mm (Figure 1). Upon evaluation of the outflow tract, both the LVOT (left ventricular outflow tract) and RVOT (right ventricular outflow tract) have normal anatomy and function using 2D and CF ultrasound evaluation (Figure 2). According to the fetal echo finding, a diagnosis of cardiac rhabdomyoma was made. Since there is a high chance of tuberous sclerosis in cardiac rhabdomyoma, detailed neurosonography and other system exams were done to look for other signs of tuberous sclerosis. Despite searching for the other features of tuberous sclerosis, no other sign of it was found other than the tumor. She had regular ANC follow-up from 32 weeks of gestation up to 39 weeks without any complications.

Figure 1 Two fetal left ventricular papillary muscle echogenic mass (rhabdomyoma) at 34 weeks.

Figure 2 Normal Left ventricular outflow tract at 34 weeks of gestation (The arrow (⬆) indicates Left Ventricular Out flow Tract (LVOT)).

At gestational age of 39 weeks plus 1 day, she underwent a cesarean section for the indication of full-term pregnancy plus a request for a repeat cesarean section, with the outcome of a 3200-gram female with an APGAR score of 10 and 10 at the 1st and 5th minutes. Both the mother and the neonate had a smooth post-operative period and were discharged on the third day.

After delivery, the neonate was evaluated on the 1^st, 7th, and 30^th days for any regression or increment of the mass, emergence of skin lesions, or seizure. All physical examination results were normal, and the mass size was similar to the antepartal evaluation.

At her 7^th month, the child was evaluated again, and upon history inquiries, the infant was doing great developmentally for her age group. The infant was examined for neurodevelopmental delay, and the child was growing appropriately for her age. An echocardiography study by a pediatric cardiologist revealed well-circumscribed hyperechoic masses on both left ventricular papillary muscles, each measuring 21.8 mm by 9.2 mm and 14.7 mm by 8.5 mm (Figure 3) and creating no left ventricular inflow obstruction (Supplementary Video 1).

Figure 3 Left ventricular papillary muscle echogenic mass (rhabdomyoma) at one year of age.

A history from the family was obtained, and a physical examination with anthropometric measurements was performed to assess her developmental condition during her first-year evaluation. The child was developing normally, as other children her age were. Except for the heart, all of the systems examined were unremarkable. An echocardiography study has revealed well-circumscribed hyperechoic masses on both left ventricular papillary muscles with no size increment and creating no left ventricular inflow obstruction.

Discussion

Primary fetal cardiac tumors are rare, with a reported prevalence of 0.08% to 0.2%. Though most of these tumors are benign there are few malignant cardiac tumors. Rhabdomyomas are the most common primary fetal cardiac tumors accounting for 60% and was first described by von Recklinghausen in 1862 as intracardiac rhabdomyoma, followed by teratomas, fibromas, hemangiomas, and myxomas.^3,8,9 It is associated with the tuberous sclerosis complex in 80% of cases, especially when multiple tumors and a positive family history of tuberous sclerosis are noted.^1,10–13 Tuberous sclerosis complex is a multisystem, autosomal dominant neurocutaneous disorder that results from mutations in one of two genes, TSC1 (encoding hamartin) or TSC2 (encoding tuberin). TS is characterized by the development of benign tumors in many tissues and organs like the brain, skin, kidneys, eyes, and heart and its neurological manifestations include epilepsy, autism, cognitive and behavioral dysfunction, and giant cell tumors. The diagnosis of TSC is primarily made clinically based on recently updated diagnostic criteria (two major or one major with at least two minor), which include eleven major and six minor clinical findings.^14–16 Our case, antepartally inside the uterus and after delivery the baby has only one major criteria that is cardiac rhabdomyoma with no other additional major and minor clinical features. In one series of cases, rhabdomyoma was identified in 19 fetuses; the diagnostic criteria for TSC were met after birth in 15 (79%).¹⁷ Though we could not perform MRI and genetic analysis because of the availability and affordability problem in our set-up we did not find other features of TSC, for this reason, the child should be followed for the features of tuberous sclerosis that can develop at any time in lifetime or do genetic test before concluding that there is no tuberous sclerosis complex.

Even though most rhabdomyomas are asymptomatic, their clinical features depend on the location, size, number, and histologic composition of the tumor. The number of fetal cardiac rhabdomyomas can range from one to 20 tumors, which may be intramural, intracavitary, or in the interventricular septum. Though the above-mentioned sites are common, it can be located in any cardiac chamber. Rhabdomyomas have a biphasic growth pattern in the fetus: they increase between 20 and 32 weeks’ gestation, then either begin to regress or remain the same size. The fetal manifestations range from minor signs to life-threatening conditions like arrhythmias, hydrops fetalis, ventricular outflow or inflow obstruction, cardiac failure, and even sudden death.^{1–3,8,18–20} In this case, except the tumor size there was no any symptom and sign of complication both while in utero and after birth at one year of age.

The diagnosis of fetal cardiac rhabdomyoma depends on fetal echocardiography, MRI, histology, and genetic analysis. On echocardiography, cardiac rhabdomyomas are visualized as homogenous multiples (90% of the cases), well-circumscribed, rounded, or oval-shaped hyperechogenic masses with a clear boundary. Detailed echocardiography is important not only to diagnose the presence of the tumor but also for its complications like outflow or inflow obstruction, arrhythmia, and affected cardiac function.

Fetal cardiac rhabdomyomas should trigger awareness of a potential coexisting tuberous sclerosis complex that can lead to a poor neurological outcome. This condition is not only uncommon but can be easily unrecognized prenatally in the absence of a meticulous neurosonogram and MRI with careful evaluation of other fetal structures, including the brain and renal parenchyma.^1,12,21,22

Most of the time Cardiac rhabdomyoma regress spontaneously after birth. However, in some cases, these tumors may cause severe obstructions on the fetal heart and need specific treatment. Treatment of the cardiac rhabdomyomas either medical or surgical is reserved only for symptomatic fetus. Medical treatments that was studied and found to be effective in shrinking of the cardiac rhabdomyomas are everolimus and sirolimus.^14,15,18,19

Although most cardiac rhabdomyomas have a relatively benign perinatal course, the long-term prognosis is determined by the neurological manifestations associated with tuberous sclerosis.²³

Conclusion

To our knowledge, there was no fetal cardiac rhabdomyoma diagnosed intrauterine and followed up to one year of age without other features of tuberous sclerosis is reported from our country Ethiopia. Even though there is no feature of TSC, one should follow the child for the development of tuberous sclerosis complex or do genetic test before concluding that the child has no feature of TSC.

Patient Consent

Written consent has been obtained from the patient after she has seen the detailed description of the case and video to be published. No institutional approval was required for the publishing of this case report.

Author Contributions

All authors contributed to data analysis, drafting or revising the article, gave final approval of the version to be published, agreed to the journal submitted to, and agree to be accountable for all aspects of the work.

Funding

No grant support or funding was given.

Disclosure

The authors have no financial or other conflicts of interest in this study.

References

1. Das BB, Sharma J. Cardiac rhabdomyoma and tuberous sclerosis: prenatal diagnosis and follow-up. Indian J Pediatr. 2003;70(1):87–89.

2. Pluym ID, Sklansky M, Wu JY, et al. Fetal cardiac rhabdomyomas treated with maternal sirolimus. Prenat Diagn. 2020;40(3):358–364.

3. Yuan S-M. Fetal Primary Cardiac Tumors During Perinatal Period. Pediatr Neonatol. 2017;58(3):205–210.

4. Careddu L, Oppido G, Petridis FD, et al. Primary cardiac tumours in the paediatric population. Multimed Man Cardiothorac Surg MMCTS. 2013;2013:mmt013.

5. Ekmekci E, Ozkan BO, Yildiz MS, Kocakaya B. Prenatal diagnosis of fetal cardiac rhabdomyoma associated with tuberous sclerosis: a case report. Case Rep Women’s Health. 2018;19:e00070.

6. Wacker-Gussmann A, Strasburger JF, Cuneo BF, Wiggins DL, Gotteiner NL, Wakai RT. Fetal arrhythmias associated with cardiac rhabdomyomas. Hear Rhythm. 2014;11(4):677–683.

7. Sharma J, Inglis S, Cavalieri R, Udom-Rice I. Fetal demise secondary to massive rhabdomyoma in the early second trimester of pregnancy. Pediatr Cardiol. 2011;32(2):243–244.

8. Axt-Fliedner R, Qush H, Hendrik HJ, et al. Prenatal diagnosis of cerebral lesions and multiple intracardiac rhabdomyomas in a fetus with tuberous sclerosis. J Ultrasound Med off J Am Inst Ultrasound Med. 2001;20(1):63–67.

9. Waggass R, Bin Yahib HS, Bin Seddeq HH, Shawli A. Rhabdomyoma and Hypoplastic Left Heart Syndrome - Case Report of a Very Rare Combination. Cureus. 2021;13:e19900.

10. Pruksanusak N, Suntharasaj T, Suwanrath C, Phukaoloun M, Kanjanapradit K. Fetal cardiac rhabdomyoma with hydrops fetalis: report of 2 cases and literature review. J Ultrasound Med off J Am Inst Ultrasound Med. 2012;31(11):1821–1824.

11. Lethor J-P, de Moor M. Multiple Cardiac Tumors in the Fetus. Circulation. 2001;103(10):E55.

12. Khanna PC, Godinho S, Pungavkar SA, Patkar DP. Ultrafast MRI in the prenatal diagnosis of Bourneville’s tuberous sclerosis. Neurol India. 2005;53(3):349–350.

13. Fesslova V, Villa L, Rizzuti T, Mastrangelo M, Mosca F. Natural history and long-term outcome of cardiac rhabdomyomas detected prenatally. Prenat Diagn. 2004;24(4):241–248.

14. Dragoumi P, O’Callaghan F, Zafeiriou DI. Diagnosis of tuberous sclerosis complex in the fetus. Eur J Paediatr Neurol. 2018;22(6):1027–1034.

15. Schepis C. The tuberous sclerosis complex. Dermatol Cryosurgery and Cryotherapy. 2016;1:615–617.

16. Northrup H, Krueger DA, Roberds S, et al. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international tuberous sclerosis complex consensus conference. Pediatr Neurol. 2013;49(4):243–254.

17. Gayón Vera E, López CC, Carrera González JE. Fetal cardiac rhabdomyoma as a rare cause of hydrops fetalis. A report of a case. Ginecol Obstet Mex. 2009;77(12):583–588.

18. Lefizelier E, Benbrik N, Bénéteau C, Le Vaillant C. Cardiac rhabdomyoma with hydrops fetalis: prenatal management by abdominal drainage. Taiwan J Obstet Gynecol. 2021;60:551–553.

19. Garg A, Gorla SR, Kardon RE, Swaminathan S. Rapid Involution of Large Cardiac Rhabdomyomas With Everolimus Therapy. World J Pediatr Congenit Heart Surg. 2021;12(3):426–429.

20. Yamamoto K, Maki Y, Sato Y, et al. Multiple cardiac rhabdomyomas not associated with tuberous sclerosis in a dizygotic twins: a case report. J Med Case Rep. 2021;15(1):334.

21. Kelekci S, Yazicioglu HF, Yilmaz B, Aygün M, Omeroglu RE. Cardiac rhabdomyoma with tuberous sclerosis: a case report. J Reprod Med. 2005;50(7):550–552.

22. Boitor Borza D, Popa Stanila R, Zaharie G, Hasmasanu M, Muresan D. Fetal cardiac rhabdomyomas as a sonographic sign of tuberous sclerosis complex - A diagnosis not to be missed. A pictorial essay. Med Ultrason. 2022;1:54.

23. Yinon Y, Chitayat D, Blaser S, et al. Fetal cardiac tumors: a single-center experience of 40 cases. Prenat Diagn. 2010;30(10):941–949.