Neonatal rhabdomyoma with cardiac dysfunction: favourable response to sirolimus

Abstract

Cardiac rhabdomyoma is the most common cardiac tumour in childhood, with a strong genetic association to tuberous sclerosis complex. Although most of the patients remain asymptomatic, a small proportion present with cardiac complications in the early neonatal period. Timely initiation of treatment can potentially reduce disease morbidity, and mammalian target of rapamycin (M-TOR) inhibitors play an effective role in promoting regression of these tumours. A healthy term newborn was diagnosed with a giant congenital cardiac rhabdomyoma at birth. He developed clinical signs of compromised cardiac function and progressive myocardial ischaemia, with echocardiography showing significant dyskinesia. He was treated with M-TOR inhibitors and clinical response was monitored via serial echocardiography. Remarkable regression of the tumour was visibly demonstrated within 4 months of sirolimus treatment. The infant continues to be reviewed by a multidisciplinary team of physicians and monitored for features of tuberous sclerosis complex.

Keywords: cardiovascular medicine; genetics; paediatric oncology; paediatrics (drugs and medicines).

Figure 1

Chest X-ray showed significant cardiomegaly. The cardio-thymic shadow is markedly enlarged projecting over the entire thorax.

Figure 2

Echocardiography on day 5 of life: apical four-chamber view. Large echogenic tumour located at the lateral left ventricular wall, measuring 48.7 x 27.1 mm, associated with a moderate-sized 13 mm pericardial effusion (dotted arrow) and multiple echogenic nodules (full arrows). LV, left ventricle; RV, right ventricle.

Figure 3

Cardiac MRI revealed a large mass, 5.8 × 4.8 × 4.6 cm, predominantly along the anterior and lateral walls of the left ventricle. LV, left ventricle; RV, right ventricle; RA, right atrium.

Figure 4

(Top) ECG on day 1 of life at baseline: features of left ventricular hypertrophy and left ventricular strain with ST depression and T-wave inversion in lateral leads V5-V6 (arrows). (Bottom) ECG on day 5 of life: new ST segment elevation in inferior leads II, III, AVF (arrows), indicative of myocardial ischaemia.

Figure 5

Serial echocardiography: parasternal short axis view. Rapid regression of cardiac tumour (*) visibly demonstrated at (A) day 5 (B) day 52 (C) day 86 (D) day 128 of life. There was near complete response achieved with sirolimus therapy.