|Year : 2015 | Volume
| Issue : 2 | Page : 129-131
Antenatally diagnosed fetal cardiac tumor associated with tuberous sclerosis
Nuha Nimeri, Mohamed Abdelmaaboud, Ashraf Eissa, Sajjad Abdulrhman
Department of Pediatrics, Neonatal Intensive Care Unit, Women's Hospital, Hamad Medical Corporation, Doha, Qatar
|Date of Web Publication||6-Apr-2015|
Dr. Nuha Nimeri
Neonatal Intensive Care Unit, Women's Hospital, Hamad Medical Corporation, Doha
Source of Support: None, Conflict of Interest: None
Term male baby was born by normal vaginal delivery. The mother was followed-up in fetomaternal unit. Ultrasound report showed a huge mass arising externally from left ventricle free wall with multiple intracardiac masses with moderate pericardial effusion. A possibility of rhabdomyoma was considered. Baby was born with poor respiratory effort needed resuscitation and mechanical ventilation. Immediate postnatal echocardiography confirmed the presence of the extra and intra cardiac masses. Baby remained hemodynamically stable, developed one attack of supraventricular tachycardia and heart failure for which medical treatment given. Investigations confirmed the presence of tuberous sclerosis complex in this baby including magnetic resonance imaging and computed tomography (CT) scan that showed multiple subcortical and periventricular tubers'. CT abdomen showed angiomyolipoma of the left kidney, which disappeared completely after that. Baby remained free from neurological symptoms, discharged home on oral propranolol with multidisciplinary outpatient follow-up. His cardiac masses regressed significantly over his 2 years of life
Keywords: Rhabdomyoma, term, tuberous sclerosis
|How to cite this article:|
Nimeri N, Abdelmaaboud M, Eissa A, Abdulrhman S. Antenatally diagnosed fetal cardiac tumor associated with tuberous sclerosis. J Clin Neonatol 2015;4:129-31
|How to cite this URL:|
Nimeri N, Abdelmaaboud M, Eissa A, Abdulrhman S. Antenatally diagnosed fetal cardiac tumor associated with tuberous sclerosis. J Clin Neonatol [serial online] 2015 [cited 2020 Apr 5];4:129-31. Available from: http://www.jcnonweb.com/text.asp?2015/4/2/129/154126
| Introduction|| |
Cardiac tumors are very rare. Despite many case series have been reported, the clinical presentation, the natural history and the frequency with which cardiac tumor is associated with tuberous sclerosis complex (TSC) are still not well determined.
We are reporting a rare presentation of a huge mass which arises externally from left ventricular free wall with multiple intra cardiac masses diagnosed antenatelly and confirmed postnatelly to be rhabdomyoma. The case was proved to be associated with TSC. Up to our knowledge no reported cases about huge externally attached cardiac masses that proved to be rhabdomyoma in TSC.
| Case Report|| |
A term male baby boy was born by normal vaginal delivery with birth weight of 3600 g. The mother is 18 years old G2 P0 + 1 lady. Parents are first-degree cousins, and they have no family history of congenital heart disease or neurological disorders. She was normal throughout her pregnancy till 35 weeks gestation when she was referred because of the presence of fetal ascites to the fetomaternal unit (FMU) for further evaluation.
In the FMU, the ultrasound revealed the presence of huge homogenous mass arising externally from left ventricle free wall and multiple intracardiac masses most likely rhabdomyoma with moderate size pericardial effusion no other anomalies [Figure 1]. A multidisciplinary team counseled the parents including neonatologist, cardiologist, cardiac surgeon and obstetrician regarding the nature of the condition, its outcome, the anticipated associations and finally the mode of delivery. Delivery was attended by neonatology team and baby born with poor respiratory effort needed intubation and mechanical ventilation and transferred to neonatal intensive care unit. Baby was given Apgar score of 6 and 8 at 1 min and 5 min respectively. On examination, there was no apparent dysmorphism. Baby was pink in color. Respiratory, cardiac and central nervous systems examination were normal. Skin examination showed hypo pigmented patches one over the right shoulder with two patches over the back diagnosed by dermatologist later as ash leaf spots. Immediate postnatal echocardiography confirmed the presence of large external homogenous cardiac masses arising from the left ventricle free wall and occupies most of the left side of the chest and multiple myocardial masses more in the left ventricle cavity with no inflow or outflow tract obstruction, small masses were seen in right ventricle causing no obstruction to the outflow tract [Figure 2]. The diagnosis of cardiac rhabdomyoma was considered, and screening for tuberous sclerosis was done for the baby. Computed tomography (CT) brain showed presence of tubers in sub cortical and periventricular region, CT scan abdomen showed angiomyolipoma of the left kidney, which resolved later. Chromosomal study was normal. Fundus examination revealed no tuberous lesions. The diagnosis of TSC was put. Screening for parents in the form of CT brain and abdomen were normal.
|Figure 1: Left - Antenatal scan showed huge cardiac mass. Right - Post natal echo sub costal view showed the huge extra cardiac rhabdomyoma|
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|Figure 2: Post natal echocardiography sub costal view arrows showed the huge extra cardiac and multiple intracardiac masses|
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Baby was assessed by nephrologists, neurologist, dermatologist, and cardiologist and was scheduled for frequent follow-up in outpatient clinics. Baby remained hemodynamically stable extubated after 5 days and was kept on nasal prongs for 2 weeks. Few days later baby developed an attack of supraventricular tachycardia (SVT) aborted by cold compression only, after which, baby was kept on beta blockers (propranolol) 8 hourly. Baby started on oral feeding since 5 th day of life, and he was growing well. The subsequent echocardiogram revealed progressive decrease in size of the cardiac masses. The baby was discharged home on full feeding and on oral propranolol and with the appointment for follow-up with different subspecialties. He remained free of symptoms for 2 years.
| Discussion|| |
Cardiac tumors are rare, their incidence varies from 0.0017% to 0.28%. More than 90% are benign in nature. 
Rhabdomyomas are the most common benign cardiac neoplasms occurring in the fetus and neonate, with most of them identified within the 1 st year of life.  Recent echocardiographic studies showed a 50% to 80% incidence of cardiac rhabdomyomas in patients with TSC, while 50-60% of patients with TSC have rhabdomyomas. They can be multiple, involving internal ventricular free and septal walls. , They vary from small to extremely large and are rarely excised because of the tendency to regress over time. Our patient presented with huge externally attached the tumor with multiple small tumors which was not a common association. 
Two common complications are development of arrhythmias and congestive heart failure. Our patient developed in utero heart failure manifested by ascites together with SVT attacks. 
Jiménez Casso et al. conducted a study to assess the history of cardiac rhabdomyomas in infants with TSC from 1970 to 1998, 39 patients were diagnosed as having TSC. Cardiac rhabdomyomas were present in 18 of them; spontaneous regression of the tumors was shown in 12 of the 18 patients with complete resolution in two of them. 
Pipitone detected among 5276 fetal echocardiograms nine cases of cardiac rhabdomyoma over a 10 years period in a single center. The gestational age at diagnosis ranged from 27 to 36 weeks that is the same age of our patient. The most common reason for fetal echocardiography was an abnormal obstetric ultrasound scan as in our patient that needs further evaluation by expertise to diagnose the case. 
Any detection of a fetal cardiac tumor needs screening.  This includes scanning of the head, abdomen, kidneys and eye examination to diagnose TSC early as what was done for our patient.
Bader et al. reviewed medical records of all cases diagnosed prenatally and postnatally with cardiac rhabdomyoma between January 1990 and June 2002. Twenty fetuses were diagnosed with cardiac rhabdomyoma, 19 continued pregnancies. On follow-up, 15 of 19 with available outcome had TSC (79%).  In 2010 Aggarwal et al., published a case of rhabdomyoma not associated with TSC. 
Niewiadomska-Jarosik et al., 2010 evaluated the prenatal characteristics and postnatal outcome of 23 fetuses with cardiac tumors diagnosed at two prenatal Polish cardiology centers, and they concluded that survival is not different between neonates with single and multiple tumors and between those with and without congestive heart failure. 
Screening for the presence of TSC must be performed in any case with the rhabdomyoma soon after birth. They need frequent follow-up, and the outcome is good.
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[Figure 1], [Figure 2]