Section of Oncopathology and Regenerative Biology, Department of Pathology, Faculty of Medicine, University of Miyazaki, 5200 Kihara, Kiyotake, Miyazaki, Japan.
Department of Obstetrics and Gynecology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
J Med Case Rep. 2021 Jul 5;15(1):334. doi: 10.1186/s13256-021-02943-x.
Rhabdomyomas comprise the majority of cardiac tumors in fetuses and are found in association with tuberous sclerosis complex. More than 90% of fetuses and neonates with multiple cardiac rhabdomyomas have signs of tuberous sclerosis complex. However, solitary cardiac rhabdomyoma cases are largely unrelated to tuberous sclerosis complex. Here, we report a case involving multiple cardiac rhabdomyomas not associated with tuberous sclerosis complex in a dizygotic twin.
A 36-year-old Japanese woman was diagnosed with a dizygotic twin pregnancy in the first trimester. Consistent with dizygosity, the fetal sex was discordant (male and female). At 27 weeks of gestation, hydrops and multiple echogenic cardiac masses were noted in the male baby, with the largest mass measuring 34 × 30 mm. The female fetus appeared normal. The cardiac masses enlarged gradually with the progression of the hydrops. At 32 weeks of gestation, intrauterine death of the male fetus was confirmed. The next day, autopsy of the male fetus was performed after cesarean section. Three well-demarcated white-tan-colored nodules were formed in the ventricular walls and interventricular septum, with the largest nodule (40 × 30 mm) in the left ventricular wall. Histologically, these lesions were diagnosed as rhabdomyomas.
We encountered a case involving multiple cardiac rhabdomyomas arising in one of dizygotic twin fetuses. Unlike most reported cases of multiple cardiac rhabdomyomas, this case was not accompanied by tuberous sclerosis complex. To the best of our knowledge, this is the first case report of multiple cardiac rhabdomyomas that developed in only one of dizygotic twins in the English literature.
横纹肌瘤构成胎儿心脏肿瘤的大多数，并与结节性硬化症复合征相关。超过 90%的多发性心脏横纹肌瘤胎儿和新生儿存在结节性硬化症复合征的迹象。然而，孤立性心脏横纹肌瘤病例与结节性硬化症复合征关系不大。在这里，我们报告一例与结节性硬化症复合征无关的双卵双胞胎多发性心脏横纹肌瘤病例。
一名 36 岁的日本女性在孕早期被诊断为双卵双胞胎妊娠。与双卵双胎一致，胎儿性别不一致（男性和女性）。在 27 周妊娠时，男性胎儿出现水肿和多发性心脏强回声肿块，最大肿块大小为 34×30mm。女性胎儿正常。随着水肿的进展，心脏肿块逐渐增大。在 32 周妊娠时，确认男性胎儿宫内死亡。第二天，在剖宫产术后对男性胎儿进行了尸检。在心室壁和室间隔形成了三个界限清楚的灰白色小结节，最大的结节（40×30mm）位于左心室壁。组织学上，这些病变被诊断为横纹肌瘤。
我们遇到了一例双卵双胞胎胎儿中的一个出现多发性心脏横纹肌瘤的病例。与大多数报道的多发性心脏横纹肌瘤病例不同，本例不伴有结节性硬化症复合征。据我们所知，这是首例在英文文献中报道的仅在双卵双胞胎之一中发生多发性心脏横纹肌瘤的病例。
