Cardiac Rhabdomyomas and Congenital Hypothyroidism: A Coincidence or Hamartia

Abstract

Cardiac rhabdomyomas are the most common primary cardiac tumors in children. These tumors are generally asymptomatic, although they may be associated with neonatal tuberous sclerosis complex. Despite the fact that thyroid dysfunction rarely occurs in tuberous sclerosis, papillary adenomas (hamartomas) of the thyroid gland have been reported in a number of autopsies. Herein, we present the case of an infant with tuberous sclerosis, congenital hypothyroidism and multiple cardiac rhabdomyomas, leading to atrioventricular node dysfunction. Considering the rarity of this co-occurrence, we decided to report the present case. The co-occurrence of these two disorders in one patient may be a mere coincidence or related to hamartoma of the thyroid gland as a consequence of tuberous sclerosis gene products.