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© 2003 European Association of Cardio-Thoracic Surgery
Cardiac rhabdomyoma presenting as left ventricular outflow tract obstruction in a neonate
a Department of Paediatrics, Wordsley Hospital, West Midlands, UK
* Corresponding author. Department of Paediatric Cardiology, Royal Liverpool Children's NHS Trust, Alder Hey, Liverpool L12 2AP, UK. Tel.: +44-151-220-0012; fax: +44-151-252-5643 Received July 25, 2002; received in revised form July 2, 2003; accepted July 7, 2003
A case of congenital cardiac rhabdomyoma presenting as left ventricular outflow tract obstruction is reported. Congenital cardiac tumours are rare. Rhabdomyomas are the most common. Fifty-one to 86% of them are associated with tuberous sclerosis. They have a tendency for spontaneous regression. The indications for surgery include haemodynamic compromise and intractable arrhythmias.
Key Words: Cardiac rhabdomyoma; Tuberous sclerosis; Left ventricular outflow tract obstruction
The patient was a 3.25 kg, full term male baby born to a 19-year-old primigravida mother at a district general hospital. The mother had been a known epileptic since early childhood, who suffered from absences and complex partial seizures. She was on carbamazepine during pregnancy. The patient was born by vaginal delivery and did not require any resuscitation. Apgars were 8 and 9 at 5 and 10 min, respectively. During a routine postnatal check at 18 h of life, he was noted to have weak peripheral pulses. Examination of the cardiovascular system revealed normal heart sounds and a grade 3/6 ejection systolic murmur in the left upper parasternal region, conducted widely to all areas of the precordium and back. Oxygen saturation was normal and blood pressures in all four limbs were on the low normal side with no discrepancy between upper and lower limb pressures. The rest of the systemic examination was normal. The child was asymptomatic at presentation. A clinical diagnosis of critical aortic stenosis or hypoplastic left heart syndrome was made. Chest X-ray and ECG were normal. Echocardiography revealed multiple echogenic masses in the myocardium of the left and right ventricles. A mass protruded into the left ventricular out flow tract causing obstruction to blood flow (Fig. 1) with a doppler derived peak systolic gradient of 60 mmHg. A final diagnosis of multiple neonatal cardiac rhabdomyomas was made. An association with tuberous sclerosis was suspected.
He was immediately transferred to a tertiary cardio thoracic unit, where he underwent surgery at 36 h of life. At surgery a large pedunculated dumbbell shaped mass was found in the left ventricular outflow tract, protruding through the aortic opening (Fig. 2), which was excised. The histology of the mass confirmed it to be a rhabdomyoma. The child had an uneventful postoperative period and was discharged on day 9 and is currently doing well.
During hospital stay both mother and baby were examined for other features of tuberous sclerosis. The mother had an angiofibroma over her face and multiple hypo pigmented patches. The baby had multiple hypo-pigmented patches under Wood's lamp examination. So a provisional diagnosis of tuberous sclerosis was made.
Neonatal cardiac tumours are rare entities. Autopsy series in children have reported an incidence 0.027–0.08% [1] whereas a review of a large echocardiographic database at Boston Children's Hospital suggested an incidence of 0.17% [1]. Of the cardiac tumours in children rhabdomyomas are the most common [1]. The incidence of symptomatic rhabdomyomas in infancy in the UK has been estimated to be 1 in 326,000 [2]. Cardiac rhabdomyomas are strongly associated with tuberous sclerosis. It is estimated that 50–60% of tuberous sclerosis patients will develop cardiac rhabdomyomas [1,2]. Conversely 51–86% of the rhabdomyomas are reported to be associated with tuberous sclerosis [1–3]. Rhabdomyomas are generally multiple, well-circumscribed tumours that can occur anywhere in the heart, most commonly in the ventricles. They can be intramural or pedunculated and encroaching on the intracavitary space. They are hamartomas with no malignant potential [1]. The clinical presentation of cardiac rhabdomyomas depends on their number, size and position. They may be detected prenatally on a routine foetal ultrasound scan [1,2] or may present as hydrops foetalis [1,2]. Postnatally they may be totally asymptomatic, may present with an asymptomatic cardiac murmur or may present variously as congestive cardiac failure, low cardiac output due to intracardiac flow obstruction [1,2,4], arrhythmias of various types [1,2,5] or as sudden infant death [1,5]. Left ventricular outflow tract obstruction seems to be one of the rarer presentations of cardiac rhabdomyomas in infants [6]. But unlike our patient, most of these children are ill at diagnosis. The natural history of cardiac rhabdomyomas in infants and children has been well studied [6]. All the studies have shown that these tumours have a propensity for spontaneous regression. Younger the age at diagnosis, higher the chance for spontaneous regression, complete regression being more common in the first 4 years of life [6]. This has important implications for therapy. Surgical intervention is indicated only in the event of haemodynamic compromise or intractable arrhythmias. If complete surgical resection is not possible because of the location of the tumour, a partial resection can be done and the residual tumour usually regresses. The mortality from surgery for cardiac tumours in children is about 5% [7]. Cardiac rhabdomyomas are one of the common presentations of tuberous sclerosis in the neonatal period. Some of the neonates also have skin lesions. Later in infancy they can present with infantile spasms and polycystic kidney disease, indistinguishable from autosomal dominant polycystic kidney disease. Older children and adults can present with skin lesions, seizures, usually myoclonic or complex partial, learning and behavioural disorders, renal angiomyolipomas and central nervous system tumours [8]. Genetic markers for tuberous sclerosis have been identified on chromosomes 9 and 16 [8]. In most of the instances cardiac rhabdomyomas are usually detected antenatally in infants born to mothers with tuberous sclerosis [9] or the children are significantly symptomatic in the neonatal period [10]. As far as the authors are aware, this is one of the very few cases detected to have a cardiac rhabdomyoma in a clinically stable neonate without any antenatal suspicion.
ICVTS on-line discussion Author: Dr. Antonio Corno, CHUV, Department of Cardiovascular Surgery, 46 rue du Bugno, Lausanne, CH-1011 Switzerland Date: 26-Sep-2003 Message: The Authors have to be acknowledged for their report of the successful surgical management of a neonate with left ventricular rhabdomyoma. Despite earlier reports with successful surgical treatment of neonates with left or right ventricular rhybdomyoma within the first day of life (Corno et al.: Cardiac rhabdomyoma: surgical treatment in the neonate. J Thorac Cardiovasc Surg 1984;87:725--31), the decision making in these cases about the best timing for surgical indication, and the following surgical approach, are always a major challenge for the entire team taking care of the patient. It would be interesting to have the comments by the Authors regarding the apparent discrepancy between the fact that the neonate was defined as "asymptomatic", and, probably because of the presence of "weak peripheral pulses", the "clinical diagnosis of critical aortic stenosis or hypoplastic left heart syndrome was made". The above consideration has important consequences on the decision making process. Because of the potential clinical regression of the rhabdomyomas, particularly in the presence of multiple tumors like in the reported case, general agreement exists that indication for surgical treatment should be considered in neonates only in the presence of significant hemodynamic obstruction to the ventricular inflow and/or to the outflow tract. Therefore the Authors should comment on why the decision for surgical treatment has been accepted in the first day of life, despite the fact that the neonate was "asymptomatic". Response Author: Dr. Paul Miller, Consultant Cardiologist, Birmingham Children's Hospital, Department of Cardiology, Steel House Lane, Birmingham B4 6NH, UK. Date: 17-Oct-2003 Message: It is well documented that cardiac rhabdomyomas regress over a period of months to years and for the most part, a conservative strategy is adopted. In this case, the morphological appearances of the mass prolapsing through the aortic valve (with potential valve damage) and degree of acute obstruction suggested that conservative management would be inappropriate and that cardiovascular collapse could be precipitated by ductal closure. Early surgical intervention was therefore felt to be indicated in this particular case. doi:10.1016/S1569-9293(03)00150-6
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Abstract
1. Case report
