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PubMedDate not supplied

Prenatal diagnosis of familial tuberous sclerosis following detection of cardiac rhabdomyoma by ultrasound.

The authors report a case of tuberous sclerosis (TS), diagnosed by prenatal ultrasound, which was suspected by the detection of intracardiac tumours and confirmed by the family investigation. Cardiac rhabdomyomata can be visualized early on echography and must suggest this diagnosis. The place of genetic counselling and prenatal diagnosis in TS is examined.

Echocardiography↗
PubMed2004

Natural history and long-term outcome of cardiac rhabdomyomas detected prenatally.

OBJECTIVES: To analyse the data of fetal cases with rhabdomyomatosis, the growth of masses in utero, and the relative outcome. MATERIAL AND METHODS: Thirteen cases of cardiac/pericardial tumours with characteristics suggesting rhabdomyomatosis were found in our centre on fetal echocardiography, five before 24 wg (group A) and eight (group B) at 25 to 36 wg. Four patients terminated the pregnancy, nine continued the pregnancy and were followed-up until delivery and after birth (median postnatal follow-up of 4.2 years, range 18 months-16 years). RESULTS: In six/nine cases that continued the pregnancy (66.7%), the growth of smaller tumor masses was proportional with gestational age until 30 to 32 wg and was stable after that. In three cases, larger masses grew disproportionally and other small masses were revealed, causing a partial obstruction of outflow tracts. After birth, no case required surgery and no serious rhythm problems occurred. Cardiac masses regressed at least partially in all cases. Tuberous sclerosis was diagnosed in 9/11 cases (81.1%) investigated by magnetic resonance imaging in utero or postnatally. One case also had bilateral polycystic kidneys. CONCLUSIONS: Multiple and larger noduli progressed disproportionally in utero, until 30 to 36 wg. No relevant cardiac problems occurred after birth and the masses regressed in all cases. The high frequency of association with tuberous sclerosis is confirmed in our series.

Female↗
PubMed1997

Congenital retroperitoneal tumour: rhabdomyoma or rhabdomyosarcoma?

This case report demonstrates the difficulties experienced by pathologists when confronted with a tumour that is not typical of either a benign tumour or its malignant counterpart and adds to the rapidly growing list of conditions diagnosed by means of antenatal ultrasonography.

Female↗