Cardiac
rhabdomyomas are typically presented in the
tuberous sclerosis. Although benign and often associated with
spontaneous regression, in rare circumstances huge mass size and critical
location can
lead to
heart failure, ventricular outflow tract obstruction and refractory
tachyarrhythmias. An 1-day-old
girl was diagnosed as
cardiac tumor during perinatal period. At
birth,
transthoracic echocardiography revealed huge cardiac mass located in
septal area of both ventricle measuring 34×30 mm. It protruded into the left ventricular (LV) outflow tract, potentially obstructing it. A surface
ECG revealed atrial
tachycardia with
nonsustained ventricular tachycardia with
heart rate of 217 beats per min. The
tachyarrhythmias were controlled with intravenous
amiodarone. Reduction of the giant cardiac mass was treated with
mammalian target of rapamycin pathway inhibitor
sirolimus. However, she unfortunately died
at 10 days-old because of
sudden cardiac arrest maybe due to LV outflow tract obstruction during
therapy.
Gene analysis revealed TSC2
mutation after
death. (Ewha Med J 2022;45(3)e5)