cardiac myxomas

心脏粘液瘤
  • 文章类型: Case Reports
    背景:卡尼综合征是一种罕见的常染色体疾病,与PRKAR1A基因突变密切相关。皮损是卡尼综合征最明显的特征,影响超过80%的患有这种疾病的人。这种综合征的特征是粘液瘤的三联征,皮肤色素沉着,和内分泌机能亢进,以皮肤和心脏受累的多种内分泌肿瘤为特征。扩张型心肌病,原发性心肌病,定义为左心室或两个心室的扩张和收缩功能受损。其临床表现从无症状到心力衰竭或心源性猝死,使其成为全球心力衰竭的主要原因。目前,扩张型心肌病的患病率估计为1/2500-1/250人,主要影响30-40岁的人,男女比例为3:1。该病例报告描述了由Carney综合征合并扩张型心肌病引起的心脏粘液瘤的心力衰竭患者。患者通过心脏移植成功治疗心力衰竭。
    方法:这里,我们报告一例因卡尼综合征导致心脏黏液瘤合并扩张型心肌病的心力衰竭.一名35岁男性3年前因突发胸闷、呼吸急促入院。超声心动图提示粘液瘤,基因筛查和体格检查的结合证实了卡尼综合征伴有心脏粘液瘤。在对症处理后,他出院了.当时没有考虑手术干预。然而,患者的胸闷和气短症状加重,他回到了医院.纽约心脏协会的心脏功能四级得到证实,超声心动图显示扩张型心肌病伴有心脏粘液瘤。最终,患者的心力衰竭通过心脏移植成功治疗。
    结论:卡尼综合征引起的心脏黏液瘤合并扩张型心肌病引起的心力衰竭可通过心脏移植解决。
    BACKGROUND: Carney syndrome is an uncommon autosomal disorder closely linked to mutations in the PRKAR1A gene. Skin lesions are the most pronounced feature of Carney syndrome, affecting over 80% of individuals with this condition. This syndrome is characterized by a triad of myxomas, skin pigmentation, and endocrine hyperfunction, featuring multiple endocrine neoplasms with skin and cardiac involvement. Dilated cardiomyopathy, a primary cardiomyopathy, is defined as the dilation and impaired systolic function of the left or both ventricles. Its clinical presentation varies from being asymptomatic to heart failure or sudden cardiac death, making it a leading global cause of heart failure. Currently, Dilated cardiomyopathy has an estimated prevalence of 1/2500-1/250 individuals, predominantly affecting those aged 30-40 years, with a male-to-female ratio of 3:1. This case report describes a heart failure patient with cardiac myxoma caused by Carney syndrome combined with dilated cardiomyopathy. The patient was successfully treated for heart failure by heart transplantation.
    METHODS: Herein, we report a case of heart failure due to Carney syndrome that resulted in cardiac myxoma combined with dilated cardiomyopathy. A 35-year-old male was admitted to the hospital three years ago because of sudden chest tightness and shortness of breath. Echocardiography indicated myxoma, and a combination of genetic screening and physical examination confirmed Carney syndrome with cardiac myxoma. Following symptomatic management, he was discharged. Surgical interventions were not considered at the time. However, the patient\'s chest tightness and shortness of breath symptoms worsened, and he returned to the hospital. A New York Heart Association grade IV heart function was confirmed, and echocardiography indicated the presence of dilated cardiomyopathy accompanied by cardiac myxoma. Ultimately, the patient\'s heart failure was successfully treated with heart transplantation.
    CONCLUSIONS: Cardiac myxoma caused by Carney syndrome combined with heart failure caused by dilated cardiomyopathy can be resolved by heart transplantation.
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  • 文章类型: Case Reports
    背景:儿科患者存在原发性心脏肿瘤是一种罕见的超声心动图发现。
    方法:我们报告了一例11岁女性患者的多发性外周栓塞,由于巨大的左心室肿瘤,具有独特的超声心动图外观。由于急性疼痛和双腿失去敏感性,患者被转诊至急诊科。既往史对急性淋巴细胞白血病有重要意义。在体检时,怀疑双侧小腿缺血。两条腿的多普勒动脉超声证实了上述怀疑,右下肢髂外动脉部分闭塞,股动脉完全闭塞。同时,在左下肢,闭塞位于胫腓骨近端动脉.心脏超声检查显示,mobile,左心室腔内肿块。除了它的大尺寸(6.3厘米乘3厘米),它的外观是惊人的,以及它有非常移动和脆弱的边缘。急诊双侧动脉内膜切除术和左心室肿瘤切除术在全身抗凝治疗的同时进行。以优异的成绩,因为在左心室看不到肿瘤的残余肿块,下肢动脉血流完全恢复。切除肿块的组织病理学方面是粘液瘤。患者术后恢复良好,术后第14天出院。
    结论:尽管由于在儿科人群中罕见,仅报道了少数心脏粘液瘤病例,外周栓塞的临床表现引发了我们患者对栓塞机制的高度怀疑,并促使患者进行快速评估和成功治疗.
    BACKGROUND: The presence of a primary cardiac tumor in a pediatric patient is a rare echocardiographic finding.
    METHODS: We report the case of an 11-year-old female patient with multiple peripheral embolisms, due to a gigantic left ventricular tumor, with a unique echocardiographic appearance. The patient was referred to the emergency department due to acute pain and loss of sensitivity in both of her legs. Past medical history was significant for acute lymphoblastic leukemia. Upon physical examination, suspicion of bilateral lower leg ischemia was raised. Doppler arterial ultrasound of both legs confirmed the suspicion mentioned above, as the right lower extremity suffered from partial arterial occlusion of the external iliac artery and total occlusion of the femoral arteries. Meanwhile, in the left lower extremity, the occlusion was localized in the proximal tibio-peroneal artery. Cardiac sonography revealed a massive, mobile, left ventricular intracavitary mass. Aside from its large dimensions (6.3 cm by 3 cm), its aspect was striking as well as it had very mobile and friable edges. Emergency bilateral endarterectomy and excision of the left ventricular tumor were performed alongside systemic anticoagulant therapy, with excellent results, as no tumoral residual masses could be seen in the left ventricle, and the arterial blood flow was restored completely in both lower extremities. The histopathological aspect of the excised masses was that of a myxoma. The patient recovered well after surgery and was discharged on postoperative day 14.
    CONCLUSIONS: Despite only a handful of cases of cardiac myxomas being reported due to their rarity in the pediatric population, clinical presentation with peripheric embolism triggered a high index of suspicion of embolic mechanism in our patient and prompted a rapid assessment and successful management.
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  • 文章类型: Case Reports
    这是一例结膜黏液样间质瘤(COMST)患者的病例报告,模仿了一个phlyctenulosis。结膜和角膜的肿瘤占据了很大的范围,从粘液瘤的良性病变到侵袭性,危及生命的恶性肿瘤.鞘膜病和鞘膜角膜结膜炎是对外源抗原的超敏反应。
    一名64岁男性,有6个月的左眼结膜非疼痛性肿块病史。那是一部手机,非招标,非溃疡,非出血性,非色素性病变,不粘附巩膜。考虑了根瘤病或软组织肿瘤的鉴别诊断。病变完全切除。显微镜检查显示一个不明确的低细胞黏液样病变,由星状和纺锤形细胞组成,嗜酸性细胞胞浆,含有圆形卵形和纺锤形核,具有泡状彩色图案。肿瘤细胞弥漫性,波形蛋白和CD34强阳性,S100阴性。免疫形态学特征与结膜粘液样间质瘤相容。完整的系统评估排除了与全身性粘液瘤的可能关联。
    结膜粘液样肿瘤是良性肿瘤,然而,它们可以模仿其他良性疾病,如疱疹病或更险恶的病变,如恶性肿瘤。因此,重要的是进行切除活检,以确定不确定的结膜病变的明确病理。COMST可能是检测先前未诊断的粘液瘤综合征的指标。一个这样的关联是心脏粘液瘤,这可能导致血管栓塞事件。因此,对所有诊断为COMST的患者进行心脏筛查非常重要.
    UNASSIGNED: This is a case report of a patient with a conjunctival myxoid stromal tumor (COMST), mimicking a phlyctenulosis. Tumors of the conjunctiva and cornea occupy a large spectrum ranging from benign lesions of myxoma to aggressive, life-threatening malignancies. Phlyctenulosis and phlyctenular keratoconjunctivitis are hypersensitivity reactions to a foreign antigen.
    UNASSIGNED: A 64-year-old male presented with six-month history of non-painful lump in the conjunctiva of the left eye. It was a mobile, non-tender, non-ulcerated, non-hemorrhagic, non-pigmented lesion and was non-adherent to the sclera. The differential diagnosis of phlyctenulosis or a soft tissue tumor was considered. The lesion was completely excised. The microscopy showed an ill-defined hypocellular myxoid lesion composed of stellate and spindle-shaped cells with eosinophilic cytoplasm, containing round-ovoid and spindle-shaped nuclei with a vesicular chromatic pattern. The tumor cells were diffusely and strongly positive for vimentin and CD 34 and were negative for S100. The immunomorphological features were compatible with a conjunctival myxoid stromal tumor. Complete systemic evaluation excluded the possible association with systemic myxomas.
    UNASSIGNED: Myxoid tumors of the conjunctiva are benign tumors, however, they can mimic other benign conditions like phlyctenulosis or more sinister lesions like malignant tumors. Therefore, it is important to do an excisional biopsy to ascertain the definitive pathology of an indeterminate conjunctival lesion. COMST may be the index presentation for the detection of previously undiagnosed myxoma syndromes. One such association is with cardiac myxomas, which can result in vascular embolic events. Therefore, it is important to do cardiac screening in all patients diagnosed with a COMST.
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