Summary
Rhabdomyomas are the most common benign cardiac tumours. They are often associated with tuberous sclerosis and can be diagnosed antenatally and postnatally by echocardiography. Rhabdomyomas tend to regress spontaneously and are not usually operated upon, unless they become obstructive or cause severe arrhythmias. We describe the case of a child with tuberous sclerosis who was admitted for the resection of a subependymal giant cell astrocytoma, in whom cardiac rhabdomyomas in the right ventricular outflow tract were diagnosed. These two kinds of tumours are well known in the setting of tuberous sclerosis.
Résumé
Les rhabdomyomes cardiaques sont les plus fréquentes des tumeurs cardiaques bénignes. Ils sont souvent associés à la sclérose tubéreuse de Bourneville et peuvent être diagnostiqués avant et après la naissance, par échographie. Ils ont une tendance spontanée à la régression et ne sont par conséquent habituellement pas opérés, sauf s’ils se compliquent d’arythmies sévères ou d’obstruction intracardiaque. Nous rapportons le cas d’une enfant porteuse d’une sclérose tubéreuse de Bourneville avérée, admise dans notre établissement pour résection d’un astrocytome épendymaire à cellules géantes, et chez laquelle l’échographie cardiaque a révélé deux rhabdomyomes dans le ventricule droit, ces deux types de tumeurs étant fréquentes dans la sclérose tubéreuse de Bourneville.
Background
Tuberous sclerosis is an autosomal dominant syndrome with variable penetration, characterized by hamartomas in numerous organs, including the heart . The overall prevalence of tuberous sclerosis found in a study carried out in Scotland in 1986 was one in 27,000 but for children under 10 years of age it was one in 12,000 . Two genes implicated in tuberous sclerosis have been identified: the tuberous sclerosis 1 ( TSC1 ) hamartin gene on chromosome 9 (9q34) and the tuberous sclerosis 2 ( TSC2 ) tuberin gene on chromosome 16 (16p13.3) . Hence, first-degree relatives of a tuberous sclerosis patient should be investigated with ophthalmological examination, skin examination, cerebral computed tomography scan, chest X-ray, kidney examination, and echocardiography. However, in up to 60% of cases, the disease is related to de novo mutations .
Around 60% of children with tuberous sclerosis have been reported to have cardiac rhabdomyomas, whereas they only affect around 20% of adults with tuberous sclerosis . These benign tumours seem to originate from embryonic myocytes, representing hamartomas. The involution may be related to the inability of the tumours to divide while the heart chambers grow.
Cardiac rhabdomyomas were first diagnosed by histological examination of surgical or postmortem specimens but are now generally diagnosed by echocardiography. Rhabdomyomas are usually highly reflective tumours, arising from the myocardium, but may be intramural, complicating the diagnosis. If a patient with tuberous sclerosis has multiple cardiac tumours on echocardiography, they are generally considered to be cardiac rhabdomyomas . Furthermore, in view of the high frequency of rhabdomyomas in infants with tuberous sclerosis, echocardiography has been proposed by some as a diagnostic tool when tuberous sclerosis is suspected in infants, even in the absence of other clinical signs, which is common at this age .
The advent of echocardiography has increased the number of reported cases of rhabdomyomas. However, the association between cardiac rhabdomyomas and tuberous sclerosis remains insufficiently recognised by adult cardiologists.
Case report
Herein, we describe the case of a 10-year-old girl who had been diagnosed with tuberous sclerosis using the current diagnostic criteria . She was found to have premature beats at auscultation and therefore underwent Holter monitoring and echocardiography prior to resection of an intracranial tumour.
Holter monitoring for 24 hours recorded numerous atrial premature beats without atrial fibrillation and transthoracic echocardiography revealed two non-obstructive masses in the right ventricular outflow tract ( Fig. 1 ). These multiple, homogeneous and echodense tumours on echocardiography were thought to be congenital cardiac rhabdomyomas, as these are common among patients with tuberous sclerosis.
As the cardiac tumours did not affect her cardiac output, the cerebral surgery was performed under general anaesthesia and was uneventful. The resected cerebral tumour was diagnosed as a subependymal giant cell astrocytoma.
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