van Wyk Gerhard, Weich Hellmuth, Joubert Zirkia, de Jager Louis Johann, McCree Kevin, John Thadathilankal-Jess
Department of Internal Medicine, Karl Bremer Hospital, Mike Pienaar Boulevard, Cape Town 7530, South Africa.
Division of Cardiology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University & Tygerberg Academic Hospital, Francie van Zijl Avenue, Cape Town 7505, South Africa.
Eur Heart J Case Rep. 2020 Dec 11;5(1):ytaa473. doi: 10.1093/ehjcr/ytaa473. eCollection 2021 Jan.
Malignant primary cardiac neoplasms are rare and primary cardiac angiosarcoma is the most common and aggressive subtype. It most commonly presents in middle-aged males and due to its non-specific clinical presentation, the diagnosis is often delayed until advanced disease is already present. Clinical presentation is determined by manifestations of local infiltration or metastatic disease and making an early diagnosis is extremely challenging.
A 15-year-old previously healthy boy was admitted to the emergency department with a history of pathological weight loss and functional decline. The patient was found to have a left-sided pneumothorax as well as bilateral diffusely spread pulmonary nodules on plain chest radiograph. Computed tomography chest confirmed widespread pulmonary metastases and a right atrial filling defect. Echocardiography revealed a right atrial tumour and transvenous endomyocardial biopsy of the tumour was done under fluoroscopic and echocardiographic guidance. A diagnosis of primary cardiac angiosarcoma was made. The patient demised shortly after presentation.
Primary cardiac angiosarcoma is rare and even more so in patients as young as the case described. The diagnostic process poses several challenges to the clinician, of which the obtaining of a histological sample is one. This case report demonstrates aspects both unique and typical of this rare disease. It also describes an effective option for obtaining tissue for a histological diagnosis in patients whose clinical condition may not allow biopsy under general anaesthesia.
原发性心脏恶性肿瘤较为罕见，原发性心脏血管肉瘤是最常见且侵袭性最强的亚型。它最常发生于中年男性，由于其临床表现不具特异性，诊断往往延迟至疾病晚期才得以做出。临床表现取决于局部浸润或转移性疾病的表现，早期诊断极具挑战性。
一名15岁既往健康的男孩因病理性体重减轻和功能下降病史被收入急诊科。胸部X线平片显示该患者存在左侧气胸以及双侧弥漫性分布的肺结节。胸部计算机断层扫描证实存在广泛的肺转移和右心房充盈缺损。超声心动图显示右心房有肿瘤，并在荧光镜和超声心动图引导下对肿瘤进行了经静脉心内膜活检。诊断为原发性心脏血管肉瘤。该患者在就诊后不久死亡。
原发性心脏血管肉瘤罕见，在像本病例所描述的如此年轻的患者中更为罕见。诊断过程给临床医生带来了诸多挑战，其中获取组织学样本是其中之一。本病例报告展示了这种罕见疾病的独特和典型之处。它还描述了一种为临床状况可能不允许在全身麻醉下进行活检的患者获取组织以进行组织学诊断的有效方法。
