Cardiac rhabdomyomas in tuberous sclerosis: clinical symptoms and course in 18 cases diagnosed in childhood
Jiménez Casso, S.; Benito Bartolomé, F.; Sánchez Fernández-Bernal, C.
Anales Espanoles de Pediatria 52(1): 36-40
2000
ISSN/ISBN: 0302-4342 PMID: 11003857 Document Number: 521703
Tuberous sclerosis is a neurocutaneous syndrome with autosomal dominant inheritance. The reported incidence is 1:10000. Recent echocardiographic studies showed a 50% to 64% incidence of cardiac rhabdomyomas in patients with tuberous sclerosis. The objective is to assess the history of cardiac rhabdomyomas in infants and children with tuberous sclerosis. From 1970 to 1998, 39 patients were diagnosticated of tuberous sclerosis. Cardiac rhabdomyomas were present in 18 of them, 9 girls and 9 boys. Ecocardiografic follow up ranged from 1 month to 14 years. Echocardiographic studies showed rhabdomyomas located in the interventricular septum, ventricles, right and left atrium. A newborn, had subaortic obstruction related to a tumor who precised surgery excision. Standard electrocardiogram showed different disturbances: premature auricular and ventricular contractions, conduccion disturbances and pre-excitation syndromes. Two patients, both neonates, had severe arrhythmias, one of them debuted with supraventricular tachycardia due to an accessory hidden left atrio-ventricular pathway who undergone successful radiofrequency ablation; and the other patient was diagnosticated prenatally of fetal complete heart block and precised permanent pacemaker at birth. After a follow up of 5.1+/-4.5 years, spontaneous regression of the tumors was shown in 12 of the 18 patients with complete resolution in two of them. All of them are asymptomatic nowadays. Our findings confirms that cardiac rhabdomyomas are most often a benign condition in which spontaneous regression is the rule and surgery is only recommended for patients with life threatening obstruction or refractory disrhythmias in the neonatal period when the tumor size is maximum.