Nguyen Martin, Nguyen Tai, Pham Thao
Radiology, West Virginia School of Osteopathic Medicine, Lewisburg, USA.
Obstetrics and Gynecology, Hung Vuong Hospital, Ho Chi Minh City, VNM.
Cureus. 2025 Jul 30;17(7):e89079. doi: 10.7759/cureus.89079. eCollection 2025 Jul.
Primary cardiac angiosarcoma is an extremely rare tumor, especially in pediatric populations (0-18 years), which often carries a poor prognosis due to vague symptoms and its aggressive nature. We present a rare case involving a 17-year-old female, illustrating the diagnostic and therapeutic difficulties posed by this condition in an atypical age group. A 17-year-old female presented with a one-month history of dry cough, exacerbated when lying down, and orthopnea requiring two pillows for sleep. After an unremarkable outpatient evaluation, an echocardiogram revealed a large pericardial effusion with preserved ejection fraction (60%), leading to hospital admission. Computed tomography (CT) identified a 3.0 × 4.0 cm irregular mass invading the right atrium, multiple mediastinal and pulmonary nodules, a solitary 3 cm liver lesion, and a skull mass. Cardiac magnetic resonance imaging (MRI) confirmed a 5.0 × 3.0 × 4.0 cm mass located in the right atrium with hyperintensity on first-pass perfusion imaging, heterogeneous contrast enhancement, and significant pericardial effusion. Liver biopsy confirmed metastatic angiosarcoma, likely of cardiac origin, with positive immunohistochemical markers (CD31, CD34, CD117; Ki-67 40%). The patient underwent six months of chemotherapy (paclitaxel and gemcitabine) without improvement. Follow-up MRI showed disease progression with new liver and kidney lesions. The patient discontinued treatment and died shortly thereafter. Cardiac AS is an aggressive malignancy with nonspecific symptoms, such as dyspnea and cough, complicating early diagnosis. These tumors most often present with distant metastases. Imaging modalities, including echocardiography, CT, and MRI, are critical for diagnosis, with histopathology and immunohistochemistry confirming the diagnosis. Treatment typically involves surgical resection and chemotherapy. However, there is no standard treatment for cardiac angiosarcoma. This case underscores the need for heightened clinical suspicion in young patients with persistent cardiopulmonary symptoms and the urgent need for novel therapeutic strategies to improve outcomes.
原发性心脏血管肉瘤是一种极为罕见的肿瘤，尤其在儿科人群（0至18岁）中，由于症状模糊且具有侵袭性，其预后往往较差。我们报告一例罕见病例，患者为一名17岁女性，说明了这种疾病在非典型年龄组中带来的诊断和治疗困难。一名17岁女性，有1个月干咳病史，平卧时加重，端坐呼吸，睡眠时需两个枕头。门诊评估无异常后，超声心动图显示大量心包积液，射血分数正常（60%），遂住院治疗。计算机断层扫描（CT）发现一个3.0×4.0厘米的不规则肿块侵犯右心房，多个纵隔和肺部结节，一个3厘米的孤立肝脏病变，以及一个颅骨肿块。心脏磁共振成像（MRI）证实右心房有一个5.0×3.0×4.0厘米的肿块，首过灌注成像呈高信号，对比增强不均匀，并有大量心包积液。肝脏活检证实为转移性血管肉瘤，可能起源于心脏，免疫组化标记物阳性（CD31、CD34、CD117；Ki-67为40%）。患者接受了6个月的化疗（紫杉醇和吉西他滨），但病情无改善。随访MRI显示疾病进展，出现新的肝脏和肾脏病变。患者停止治疗，此后不久死亡。心脏血管肉瘤是一种侵袭性恶性肿瘤，症状不具特异性，如呼吸困难和咳嗽，使早期诊断复杂化。这些肿瘤最常出现远处转移。包括超声心动图、CT和MRI在内的影像学检查对诊断至关重要，组织病理学和免疫组化可确诊。治疗通常包括手术切除和化疗。然而，心脏血管肉瘤尚无标准治疗方案。该病例强调了对有持续心肺症状的年轻患者提高临床怀疑的必要性，以及迫切需要新的治疗策略来改善治疗效果。
