Department of Anatomic Pathology, University Hospital, Pisa, Italy.
J Pediatr. 2013 May;162(5):964-9.e1. doi: 10.1016/j.jpeds.2012.10.055. Epub 2012 Dec 7.
To evaluate the role of histology in diagnosis and management of biologically benign heart tumors causing life-threatening symptoms and even death in children and fetuses. The clinical impact of a multidisciplinary approach including 2-D echocardiography, histology, genetics, and cardiac surgery has not yet been fully elucidated.
Forty-one consecutive antenatal (n = 17) or postnatal (n = 24) detected cardiac masses were evaluated by 2-D echocardiography (in alive patients) or at autopsy, and 12/41 cases with definite histologic diagnosis of primary and benign cardiac tumor were entered in this study.
Rhabdomyomas (n = 6), hemangiomas (n = 3), central fibrous body chondroma (n = 1), fibroma (n = 1), or left atrial myxoma (n = 1) were histologically diagnosed in 4 fetuses and in 8 children. Death occurred in 6 patients showing diffuse or infiltrative tumors, 2/6 experiencing intrauterine death or sudden and unexpected infant death. Seven patients underwent surgery, 4/7 are alive and well at >5 years follow-up, whereas 3 deaths followed partial tumor resection. Two fetuses with extensive tumor/s were aborted. Tuberous sclerosis complex gene mutations were seen in patients with rhabdomyomas.
Histology represents the best diagnostic approach in life-threatening pediatric cardiac tumors allowing definite diagnosis in cases other than rhabdomyoma and in sudden deaths, influencing clinical management and counselling. 2-D echocardiography remains the main tool for early clinical diagnosis and follow-up. A multidisciplinary approach is advisable because of rarity, difficult management, and possible associations with inheritable diseases.
评估组织学在诊断和治疗儿童和胎儿中导致危及生命的症状甚至死亡的生物学良性心脏肿瘤中的作用。多学科方法的临床影响，包括 2 维超声心动图、组织学、遗传学和心脏手术，尚未得到充分阐明。
41 例连续的产前（n=17）或产后（n=24）检测到的心脏肿块通过 2 维超声心动图（在存活患者中）或尸检进行评估，并且 12/41 例具有原发性和良性心脏肿瘤的明确组织学诊断的病例被纳入本研究。
横纹肌瘤（n=6）、血管瘤（n=3）、中央纤维体软骨瘤（n=1）、纤维瘤（n=1）或左心房粘液瘤（n=1）在 4 例胎儿和 8 例儿童中被组织学诊断。6 例弥漫性或浸润性肿瘤患者死亡，其中 2 例在宫内死亡或婴儿突然和意外死亡。7 例患者接受了手术，4/7 例在 >5 年的随访中存活且状况良好，而 3 例死亡是由于部分肿瘤切除。2 例胎儿因广泛肿瘤而流产。在横纹肌瘤患者中发现结节性硬化症复合物基因突变。
组织学是危及生命的儿科心脏肿瘤的最佳诊断方法，可在除横纹肌瘤和突然死亡以外的病例中做出明确诊断，影响临床管理和咨询。2 维超声心动图仍然是早期临床诊断和随访的主要工具。由于罕见、难以管理和可能与遗传性疾病相关，多学科方法是可取的。
