Diagnosis and management of tritruncal heart in an infant

Abstract

taneous abortions. The management strategy of the patients herein was flexible due to unpredictable pathologic and clinical evolution of the tumor. At birth, PGE1 therapy and adequate atrial-level shunting, requiring atrial septostomy in 1 patient, were necessary due to univentricular physiology with ductal-dependent pulmonary blood flow. Unexpectedly, both neonates presented severe pulmonary hypertension, only partially responsive to intravenous and inhaled pulmonary vasodilators. Prematurity and persistent fetal circulation were thought to be responsible; only after postmortem diagnosis of patient 2 did we identify recurrent pulmonary embolism due to tumor calcification and fragmentation. Retrospectively, therefore, the rationale for delaying surgical excision (low body weight, prematurity, expectation of spontaneous regression) appears unjustified. On the contrary, intracardiac masses with clinicopathologic features inconsistent with cardiac rhabdomyoma must be referred for early surgical excision to allow for diagnosis and prevention of life-threatening embolism. Furthermore, when fetal-type rhabdomyoma is identified in a child, genetic counseling must consider the possibility of occurrence of the tumor in future pregnancies and should advise in utero echocardiographic screening. In the case of diagnosis, however, any decision to interrupt pregnancy should take into consideration the fact that radical resection in infancy is feasible and no association with tuberous sclerosis has been reported.