Ventricular outflow obstruction, valve aplasia, bradyarrhythmia, pulmonary hypoplasia and non‐immune fetal hydrops because of a large rhabdomyoma in a case of unknown tuberous sclerosis: a prenatal diagnosed cardiac rhabdomyoma with multiple symptoms

Abstract

Cardiac tumours are very rare in intrauterine life and early infancy. Their prenatal incidence in screening examinations is estimated as 9/100,000 in a mixed group of high and low risk pregnancies but increases to 2/1000 in centres for paediatric cardiology. The most common type of tumour in this group is rhabdomyoma with about 70– 80% of all cardiac tumours in clinical series and about 40% in autopsy series. Von Recklinghausen was the first to describe a cardiac rhabdomyoma in a stillborn in 1862. Bourneville coined the term ‘tuberous sclerosis’ 18 years later. Especially in early infancy and intrauterine life, cardiac rhabdomyomas are associated with tuberous sclerosis in 50%. The incidence of rhabdomyoma in patients with tuberous sclerosis differs from 43% to 72%. Several case reports as well as clinical studies have described the appearance of rhabdomyoma in different conditions. We report a case of fetal rhabdomyoma accompanied by a combination of multiple fetal symptoms, which led to a new diagnosis of tuberous sclerosis in the mother. We present the case of a 19 year old primigravida without any previous history of diseases or pregnancy complications. The fetal cardiac tumour was first noticed during an ultrasound screening at 22 þ 2 weeks of gestation. At this time, the fetus showed prolonged episodes of bradycardia and had a pericardial effusion. A MRI suggested a cardiac rhabdomyoma and showed the tumour inside the left ventricular wall with a diameter of 19 mm. We first examined the fetus at 28 þ 0 weeks of gestation. Ultrasound showed all signs of fetal hydrops. The rhabdomyoma was 40 35 32 mm in size and was located inside the left ventricular wall. The size of the heart was 55 36 35 mm. As you can see in the ultrasound figure attached, the left outflow tract was completely obstructed by the tumour protruding into the left ventricle and the atrium. The mitral valve was fully displaced; the aortic valve appeared to be hypoplastic. The structure of the right ventricle was not affected (see Fig. 1). Both lungs seemed hypoplastic. The heart rate was about 130/minute with a few supraventricular extrasystoles. There was reversed blood flow through the foramen ovale. The ductus arteriosus was prominent and showed a regular blood flow. The ascending aorta as well as the aortic arch showed a reversed flow pattern. Doppler measurements of the descending aorta and the umbilical artery showed a normal pattern. The a-wave of the ductus venosus was positive, however, the pulsatility index was elevated. No venous pulsation was observed. We discussed the findings and the prognosis closely with the parents and the paediatric cardiologists. The parents decided to continue pregnancy but not to have close sonographic surveillance. The fetus died four weeks later at 32 weeks of pregnancy. The autopsy and histological examination confirmed the prenatal diagnosis of the suspected rhabdomyoma protruding into the left outflow tract and atrium. The mitral valve was atretic. Macroand microscopically, both lungs appeared highly immature. The neuropathological examination revealed a subependymal giant cell astrocytoma. The 19 year old patient showed multiple typical dermatological symptoms such as Adenoma sebaceum, KoenenTumour, Shagreen patch and an ash leaf spot. According to the tuberous sclerosis consensus conference, the disease was confirmed in both the mother and the stillborn. However, molecular analysis did not reveal one of the two known genes of tuberous sclerosis. BJOG: an International Journal of Obstetrics and Gynaecology December 2004, Vol. 111, pp. 1478–1480