Case 3: Fetal intracardiac tumour – A feature of a genetic disease?

Abstract

Case 3:The patient is a male infant who was born at 38 wk gestation to a healthy 37-y-old primigravida via caesarean section. Apgar scores were 9 and 10, at 1 and 5 min, respectively. Birthweight was 3500 g. At 34 wk of gestation, a large cardiac tumour in the left ventricle was noted without any evidence of atrioventricular valvular regurgitation on fetal echocardiography, and he was referred to our neonatal intensive care unit after birth.On physical examination he was well with neither cyanosis nor cardiac arrhythmia. Respiratory rate was 55/min, and heart rate was 140 bpm. No other pathological finding was noted apart from a systolic murmur (I/VI) and four hypopigmented skin patches.Chest X-ray revealed cardiomegaly, and electrocardiography showed left ventricular hypertrophy. Transthoracic echocardiography showed a large (35 )/40 mm) solitary tumour located in the apex of the left ventricle. Cardiac magnetic resonance imaging (MRI) revealed a single mass lesion originating from the myocardium of the left ventricle, also involving the interventricular septum and right ventricle (Figure 1). Abdominal ultrasonography and electroencephalographic findings were normal. Figure 1.Figure 2.