Fellow at El kaser E leany fetal medicine unit – Cairo university

Case report

A woman (G2P1) was referred  to our unit at 36 weeks of pregnancy due to suspected echogenic lung lesions. Her previous child was normal and her history was unremarkable. Our fetal heart examination revealed an homogeneous and well circumscribed lesion on the left wall of the left ventricle ( moving with heart beat). Another echogenic lesion was seen attached to interventricular septum.

Also:

- Due to mass effect the heart was pushed to right side of chest (mesocardia),

- Mild pericardial effusion,

- Mild hypertrophy of myocardium,

- Normal brain examination.

Postnatal course was uneventful and postnatal studies confirmed the diagnosis of rhabdomyomas of the hear, isolated, no tuberous sclerosis related.

Images 1 and 2; videos 1 and 2: following images and videos show the two lesions compatible with rhabdomyomas. Also there is mild pericardial effusion and hypertrophy of the myocardium.

Cardiac tumors were reported to occur in about 2.8% of all fetal cardiac anomalies seen in one center1. Rhabdomyomas account to 80%-90% of cases1,2,3,4. Sonographically, fetal cardiac rhabdomyomas appear as solid, echogenic masses, usually multiple, typically arising from the interventricular septum5,6.

Cardiac tumors could be hemodynamically significant due to obstruction of the outflow tracts or A-V valves, resulting in congestive heart failure, hydrops, pericardial effusion, and arrhythmias5. Prognosis depends on the size, number, and location of the tumor as well as associated arrhythmias and anomalies. A meta-analysis of 138 published cases of fetal cardiac rhabdomyomas found that size greater than 20 mm, presence of arrhythmia, and hydrops were significantly associated with increased morbidity8.

Infants with cardiac rhabdomyomas have a guarded prognosis. Rhabdomyomas are hormone-sensitive neoplasms, which explains their tendency to spontaneously regress9. Clinical manifestations associated with fetal cardiac rhabdomyomas are diverse, ranging from spontaneous regression of the tumor to sudden death7.

After birth, the cells lose the ability to divide, and this is the reason why rhabdomyomas can to shrink or completely resolve, and patients can often be treated conservatively10.

Rhabdomyomas are commonly associated with tuberous sclerosis, especially when multiple tumors are noted 1,11,12. The spectrum of tuberous sclerosis is wide and the typical facial nodules , kidneys or brain involvement, or the caféau-lait spots may be absent.

When tuberous sclerosis is diagnosed clinically after birth, an association rate of 50% to 80% with rhabdomyomas is possible. MR in pregnancy may support the cardiac diagnosis13 by demonstrating fetal intracranial lesions, which are found in 40% of the cases14.

In recent years, the diagnosis of tuberous sclerosis is achieved by molecular genetic testing for the tuberous sclerosis complex TSC-1 (Hamartin gene) and TSC-2 (Tuberin gene) after cordocentesis, chorionic villus sampling or amniocentesis 15.

References

1. Allan L. Fetal cardiac tumors. In: Allan L, Hornberger LK, Sharland GK, eds. Textbook of fetal cardiology. London: Greenwich Medical Media Limited, 2000;358–365.

2. D’Addario V, Pinto V, Di Naro E, et al. Prenatal diagnosis and postnatal outcome of cardiac rhabdomyomas. J Perinat Med 2002;30(2):170–175.

3. Holley DG, Martin GR, Brenner JI, et al. Diagnosis and management of fetal cardiac tumors: A multicenter experience and review of published reports. J Am Coll Cardiol 1995;26:516–520.

4. Geipel A, Krapp M, Germer U, et al. Perinatal diagnosis of cardiac tumors. Ultrasound Obstet  Gynecol 2001;17:17–21.

5. Smythe JF, Dyck JD, Smallhorn JF, Freedom RM. Natural history of cardiac rhabdomyoma in infancy and childhood. Am J Cardiol. 1990;66(17): 1247-1249.

6. DeVore GR, Hakim S, Kleinman CS, Hobbins JC. The in utero diagnosis of an interventricular septal cardiac rhabdomyoma by means of real-timedirected, M-mode echocardiography. Am J Obstet Gynecol. 1982;143(8): 967-969.

7. Dennis MA, Appareti K, Manco-Johnson ML, et al. The echocardiographic diagnosis of multiple fetal cardiac tumors. J Ultrasound Med. 1985;4(6): 327-329.

8. Chao AS, Chao A, Wang TH, et al. Outcome of antenatally diagnosed cardiac rhabdomyoma: case series and a meta-analysis. Ultrasound Obstet Gynecol. 2008;31(3):289-295.

9. Wacker-Gussmann A, Strasburger JF, Cuneo BF, et al. Fetal arrhythmias associated with cardiac rhabdomyomas. Heart Rhythm. 2014;11(4): 677-683.

10. Uzun O, Wilson DG, Vujanic GM, et al. Cardiac tumours in children. Orphanet J Rare Dis. 2007;2:11.

11. Bader RS, Chitayat D, Kelly E, et al. Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex. J Pediatr 2003;143(5):620–624.

12. Tworetzky W, McElhinney DB, Margossian R, et al. Association between cardiac tumors and tuberous sclerosis in the fetus and neonate. Am J Cardiol 2003;92(4):487–489.

13. Kivelitz DE, Muhler M, Rake A, et al. MRI of cardiac rhabdomyoma in the fetus. Eur Radiol 2004;14(8):1513–1516.

14. Muhler MR, Rake A, Schwabe M, et al. Value of fetal cerebral MRI in sonographically proven cardiac rhabdomyoma. Pediatr Radiol 2007;37(5):467–474.

15. Milunsky A, Ito M, Maher TA, et al. Prenatal molecular diagnosis of tuberous sclerosis complex. Am J Obstet Gynecol 2009;200:321.e1–6.

Cardiac tumors were reported to occur in about 2.8% of all fetal cardiac anomalies seen in one center1.

Rhabdomyomas account to 80%-90% of cases1,2,3,4.

Sonographically, fetal cardiac rhabdomyomas appear as solid, echogenic masses, usually multiple, typically arising 

from the interventricular septum5,6

Cardiac tumors could be hemodynamically significant due to obstruction of the outflow tracts or A-V valves, 

resulting in congestive heart failure, hydrops, pericardial effusion, and arrhythmias5

Prognosis depends on the size, number, and location of the tumor as well as associated arrhythmias and anomalies. 

A meta-analysis of 138 published cases of fetal cardiac rhabdomyomas found that size greater than 20 mm, 

presence of arrhythmia, and hydrops were significantly associated with increased morbidity8 

Infants with cardiac rhabdomyomas have a guarded prognosis. 

Rhabdomyomas are hormone-sensitive neoplasms, which explains their tendency to spontaneously regress9

Clinical manifestations associated with fetal cardiac rhabdomyomas are diverse, ranging from spontaneous 

regression of the tumor to sudden death7

After birth, the cells lose the ability to divide, and this is the reason why rhabdomyomas can to shrink or completely resolve, 

and patients can often be treated conservatively10.  

Rhabdomyomas are commonly associated with tuberous sclerosis, especially when multiple tumors are noted 1,11,12

The spectrum of tuberous sclerosis is wide and the typical facial nodules , kidneys or brain involvement, 

or the caféau-lait spots may be absent. 

When tuberous sclerosis is diagnosed clinically after birth, an association rate of 50% to 80% with rhabdomyomas 

is possible. MR in pregnancy may support the cardiac diagnosis13 by demonstrating fetal intracranial lesions, 

which are found in 40% of the cases14

In recent years, the diagnosis of tuberous sclerosis is achieved by molecular genetic testing for the

tuberous sclerosis complex TSC-1 (Hamartin gene) and TSC-2 (Tuberin gene) after cordocentesis, chorionic villus sampling or amniocentesis 15.

References

1. Allan L. Fetal cardiac tumors. In: Allan L, Hornberger LK, Sharland GK, eds. Textbook of fetal cardiology. London: Greenwich Medical Media Limited, 2000;358—365.

2. D'Addario V, Pinto V, Di Naro E, et al. Prenatal diagnosis and postnatal outcome of cardiac rhabdomyomas. J Perinat Med 2002;30(2):170—175.

3. Holley DG, Martin GR, Brenner JI, et al. Diagnosis and management of fetal cardiac tumors: A multicenter experience and review of published reports. J Am Coll Cardiol 1995;26:516—520.

4. Geipel A, Krapp M, Germer U, et al. Perinatal diagnosis of cardiac tumors. Ultrasound Obstet  Gynecol 2001;17:17—21.

5. Smythe JF, Dyck JD, Smallhorn JF, Freedom RM. Natural history of cardiac rhabdomyoma in infancy and childhood. Am J Cardiol. 1990;66(17): 1247-1249.

6. DeVore GR, Hakim S, Kleinman CS, Hobbins JC. The in utero diagnosis of an interventricular septal cardiac rhabdomyoma by means of real-timedirected, M-mode echocardiography. Am J Obstet Gynecol. 1982;143(8): 967-969.

7. Dennis MA, Appareti K, Manco-Johnson ML, et al. The echocardiographic diagnosis of multiple fetal cardiac tumors. J Ultrasound Med. 1985;4(6): 327-329.

8. Chao AS, Chao A, Wang TH, et al. Outcome of antenatally diagnosed cardiac rhabdomyoma: case series and a meta-analysis. Ultrasound Obstet Gynecol. 2008;31(3):289-295.

9. Wacker-Gussmann A, Strasburger JF, Cuneo BF, et al. Fetal arrhythmias associated with cardiac rhabdomyomas. Heart Rhythm. 2014;11(4): 677-683.

10. Uzun O, Wilson DG, Vujanic GM, et al. Cardiac tumours in children. Orphanet J Rare Dis. 2007;2:11.

11. Bader RS, Chitayat D, Kelly E, et al. Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex. J Pediatr 2003;143(5):620—624.

12. Tworetzky W, McElhinney DB, Margossian R, et al. Association between cardiac tumors and tuberous sclerosis in the fetus and neonate. Am J Cardiol 2003;92(4):487—489.

13. Kivelitz DE, Muhler M, Rake A, et al. MRI of cardiac rhabdomyoma in the fetus. Eur Radiol 2004;14(8):1513—1516.

14. Muhler MR, Rake A, Schwabe M, et al. Value of fetal cerebral MRI in sonographically proven cardiac rhabdomyoma. Pediatr Radiol 2007;37(5):467—474.

15. Milunsky A, Ito M, Maher TA, et al. Prenatal molecular diagnosis of tuberous sclerosis complex. Am J Obstet Gynecol 2009;200:321.e1—6.