Fesslova Vlasta, Villa Laura, Rizzuti Tommaso, Mastrangelo Massimo, Mosca Fabio
Centre of Fetal Cardiology, Centro Cardiovascolare San Donato, Via Morandi, Milano, Italy.
Prenat Diagn. 2004 Apr;24(4):241-8. doi: 10.1002/pd.825.
To analyse the data of fetal cases with rhabdomyomatosis, the growth of masses in utero, and the relative outcome.
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).
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.
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.
分析横纹肌瘤病胎儿病例的数据、宫内肿块的生长情况及相关结局。
在我们中心，通过胎儿超声心动图发现13例具有提示横纹肌瘤病特征的心脏/心包肿瘤，其中5例在孕24周前（A组），8例在孕25至36周（B组）。4例患者终止妊娠，9例继续妊娠并随访至分娩及产后（产后中位随访时间4.2年，范围18个月至16年）。
在继续妊娠的6/9例（66.7%）中，较小肿瘤肿块的生长在孕30至32周前与孕周成比例，之后稳定。3例中，较大肿块生长不成比例，且发现其他小肿块，导致流出道部分梗阻。出生后，无一例需要手术，也未发生严重的节律问题。所有病例中心脏肿块至少部分消退。在宫内或出生后接受磁共振成像检查的11例病例中，9例（81.1%）诊断为结节性硬化症。1例还患有双侧多囊肾。
多个较大结节在宫内生长不成比例，直至孕30至36周。出生后未出现相关心脏问题，所有病例中的肿块均消退。我们的系列研究证实了与结节性硬化症关联的高频率。
