Bejiqi Ramush, Retkoceri Ragip, Bejiqi Hana
Division of Cardiology, Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Kosovo.
Main Center of Family Medicine, Prishtina, Kosovo.
Open Access Maced J Med Sci. 2017 Mar 20;5(2):193-196. doi: 10.3889/oamjms.2017.040. eCollection 2017 Apr 15.
Cardiac rhabdomyoma (CRs) are the most common primary tumour of the heart in infants and children. Usually are multiple and, basing on the location can cause a haemodynamic disturbance, dysrhythmias or heart failure during the fetal and early postnatal period. CRs have a natural history of spontaneous regression and are closely associated with tuberous sclerosis complex (TSC). It has an association with tuberous sclerosis (TS), and in those, the tumour may regress and disappear completely, or remain consistent in size.
We aimed to evaluate the prenatal diagnosis, clinical presentation and outcome of CRs and their association with TSC in a single centre. The median follow-up period was three years (range: 6 months - 5 years).
We reviewed medical records of all fetuses diagnosed prenatally with cardiac rhabdomyoma covering the period January 2010 to December 2016 which had undergone detailed ultrasound evaluation at a single centre with limited technical resources.
Twelve fetuses were included in the study; mostly had multiple tumours and a total of 53 tumours were identified in all patients - the maximum was one fetus with16 tumours. All patients were diagnosed prenatally by fetal echocardiography. In two patient's haemodynamic disturbances during the fetal period was noted and pregnancies have been terminated. After long consultation termination of pregnancy was chosen by the parents in totally 8 cases. In four continuing pregnancies during the first year of live tumours regressed. TSC was diagnosed in all patients during the follow-up.
Cardiac rhabdomyoma are benign from the cardiovascular standpoint in most affected fetuses. An early prenatal diagnosis may help for an adequate planning of perinatal monitoring and treatment with the involvement of a multidisciplinary team. Large tumour size, the number of tumours and localisation may cause hydrops, and they are significantly associated with poor neonatal outcome.
心脏横纹肌瘤（CRs）是婴幼儿时期最常见的原发性心脏肿瘤。通常为多发性，根据其位置，在胎儿期及出生后早期可导致血流动力学紊乱、心律失常或心力衰竭。CRs有自然消退的病史，且与结节性硬化症复合体（TSC）密切相关。它与结节性硬化症（TS）有关，在这些病例中，肿瘤可能会完全消退并消失，或大小保持不变。
我们旨在评估单中心CRs的产前诊断、临床表现及预后，以及它们与TSC的关联。中位随访期为三年（范围：6个月至5年）。
我们回顾了2010年1月至2016年12月在单中心产前诊断为心脏横纹肌瘤的所有胎儿的病历，该中心技术资源有限，对这些胎儿进行了详细的超声评估。
12例胎儿纳入研究；大多数有多发性肿瘤，所有患者共发现53个肿瘤——最多的是1例有16个肿瘤的胎儿。所有患者均通过胎儿超声心动图进行产前诊断。2例患者在胎儿期出现血流动力学紊乱，已终止妊娠。经长时间咨询，8例患者的父母最终选择终止妊娠。4例继续妊娠的患者在出生后第一年肿瘤消退。随访期间所有患者均诊断为TSC。
从心血管角度来看，大多数受影响胎儿的心脏横纹肌瘤是良性的。早期产前诊断有助于在多学科团队的参与下，对围产期监测和治疗进行适当规划。肿瘤体积大、肿瘤数量及位置可能导致水肿，且与不良新生儿结局显著相关。
