PMC5829321_01
Two-dimensional echocardiography shows a large rhabdomyoma (arrowhead), 20.5 x 15.6 mm in diameter, occupying 75-90% of the mitral annulus, in addition to multiple small tubers in both ventricles and the left ventricular outflow tract after birth in apical 4-chamber (a), parasternal long-axis (b), and parasternal short-axis (c) views. Right atrial, right ventricular (RV), and left atrial dilatation were also observed. Pulse Doppler echocardiography showed a peak velocity through the mitral valve of 1.66 m/s (d). RV dilatation and pressure overload secondary to pulmonary hypertension were observed in a parasternal, end-diastolic short-axis view (e). The peak velocity through the tricuspid valve was 4.13 m/s (f).
CRIC2018-8395260.001.jpg
PMC5829321_01_CRIC2018-8395260.001.jpg
fig1
Two-dimensional echocardiographic examination revealed a large solitary tumor measuring 20.5 x 15.6 mm and occupying 75-90% of the mitral annulus (Figures 1). The peak velocity through the MV was 1.66 m/s (Figure 1). Right atrial and RV dilatation and pressure overload secondary to pulmonary hypertension were observed (Figure 1). The peak jet velocity through the regurgitant tricuspid valve was 4.13 m/s (Figure 1). LV dilatation, and multiple small tubers in both ventricles and the LV outflow tract were observed (Figures 1). LV ejection fraction was normal at 67.2%.
At 3 months of age, T1-weighted magnetic resonance imaging showed a right frontal cortical tuber (arrow) (a) and high signal intensity lesions in both cerebral hemispheres, with multiple nodular lesions (arrowheads) along the lateral ventricular caudothalamic grooves (b).
CRIC2018-8395260.002.jpg
PMC5829321_01_CRIC2018-8395260.002.jpg
fig2
At 3 months of age, a tonic-type seizure occurred and right frontal cortical tubers, multifocal white-matter lesions, and subependymal nodules were discovered on brain magnetic resonance imaging (Figures 2(a) and 2(b)).
Two-dimensional follow-up echocardiography showed that rhabdomyoma size was significantly decreased at 6 months of age (a). At 3 years of age, a very small (6.5 x 2.3 mm), ellipse-shaped rhabdomyoma attached to the MV anterior leaflet without LV inlet obstruction (peak velocity = 0.76 m/sec) (b and c) was observed.
CRIC2018-8395260.003.jpg
PMC5829321_01_CRIC2018-8395260.003.jpg
fig3
At 6 months of age, echocardiography revealed a further decrease in rhabdomyoma size (13.8 x 12.1 mm); the lesion occupied a smaller portion (about 50%) of the mitral annulus (Figure 3). At 3 years of age, echocardiography showed a very small (6.5 x 2.3 mm), ellipse-shaped rhabdomyoma attached to the MV anterior leaflet without LV inlet obstruction (peak velocity = 0.76 m/s) (Figures 3 and 3).