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

Vlasta Fesslova, Laura Villa, Tommaso Rizzuti, Massimo Mastrangelo, Fabio Mosca

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)241-248
Number of pages8
JournalPrenatal Diagnosis
Issue number4
Publication statusPublished - Apr 2004


  • Cardiac tumours
  • Fetal echocardiography
  • Rhabdomyoma
  • Tuberous sclerosis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology


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