Chin Re-I, Monda John J, Sheth Maulik, Ogle William, Merenda Gloria, De Debapriya
Saint Louis University School of Medicine, 1402 S Grand Blvd, Saint Louis, MO 63104, USA.
Department of Internal Medicine, SSM St. Mary's Health Center, 6420 Clayton Rd, Richmond Heights, MO 63117, USA.
Case Rep Cardiol. 2017;2017:8185601. doi: 10.1155/2017/8185601. Epub 2017 Mar 26.
We describe a case of a young male without stroke risk factors who presented with a sudden onset of left-sided weakness, left hand numbness, and left eye blurriness. CT scan of the head without contrast and diffusion-weighted MRI of the brain with contrast revealed an ischemic stroke in the right middle cerebral artery distribution. Transesophageal echocardiography (TEE) revealed a mobile pedunculated mass on the posterior surface of the mitral valve. This mass was resected and pathology showed a cardiac papillary fibroelastoma (CPFE), which was determined to be the cause of the patient's cardioembolic stroke. Further workup also found that patient had microcytic anemia secondary to -thalassemia intermedia, a rare hematologic disorder due to defective hemoglobin synthesis. Recently, another case report suggested -thalassemia major may underlie the pathogenesis of CPFE. -Thalassemia major causes a state of chronic inflammation and endothelial damage, which can mediate CPFE formation. Based on literature review, this is the first case report of a CPFE in a patient with -thalassemia intermedia. This hypothesis-generating case report calls attention to the need for elucidating the relationship between CPFE and -thalassemia in future studies to better understand the diagnosis and management of a rare cardiac tumor.
我们描述了一例无中风危险因素的年轻男性病例，该患者突然出现左侧肢体无力、左手麻木和左眼视物模糊。头颅非增强CT扫描及脑部增强弥散加权磁共振成像显示右侧大脑中动脉分布区发生缺血性中风。经食管超声心动图（TEE）显示二尖瓣后表面有一个可移动的带蒂肿块。该肿块被切除，病理显示为心脏乳头肌纤维弹性瘤（CPFE），确定其为患者心源性栓塞性中风的病因。进一步检查还发现患者患有中间型β地中海贫血继发的小细胞贫血，这是一种由于血红蛋白合成缺陷导致的罕见血液系统疾病。最近，另一例病例报告表明重型β地中海贫血可能是CPFE发病机制的基础。重型β地中海贫血会导致慢性炎症和内皮损伤状态，可介导CPFE形成。基于文献综述，这是首例关于中间型β地中海贫血患者发生CPFE的病例报告。这份产生假设的病例报告提醒人们，未来研究需要阐明CPFE与β地中海贫血之间的关系，以便更好地理解这种罕见心脏肿瘤的诊断和治疗。
