Multiple cardiac rhabdomyomas: tuberous sclerosis or not?

Accepted for publication 24 January 1997 A 27 year old woman with nine previous pregnancies was referred for a fetal scan. Family history revealed that her previous child and the father both had tuberous sclerosis. Tumours were detected antenatally; at 20 weeks' gestation a small mass was visible in the right ventricle and by 36 weeks' the right ventricular tumour had enlarged considerably, there were also small masses visible in the left ventricle. The rest of the pregnancy and the delivery were uncomplicated. Postnatal examination showed a well neonate with no abnormal findings other than a soft systolic murmur in the pulmonary area. Cardiac ultrasound revealed multiple small sized tumours in the left ventricular apex, and at least four tumours in the right ventricle. The largest was a multilobed tumour located in the right ventricular apex causing mild infundibular pulmonary stenosis (figure). There were no other clinical markers of tuberous sclerosis at birth. Six months later the child remained well, but patchy skin depigmentation typical of tuberous sclerosis had developed. His electrocardiogram was normal with no evidence of pre-excitation. Repeat echocardiogram showed good left ventricular function with regressing multiple rhabdomyomas in the left ventricle compared with the previous scan, but right ventricular masses, in particular the one in the right ventricular outflow, appeared to be larger. There was a Doppler estimated gradient of 40 mm Hg across the pulmonary infundibulum.