Two cases of atrial myxoma with calcification and ossification as the main features.

BACKGROUND: Cardiac myxomas are the most common type of primary cardiac tumors in adults, but they can have variable features that make them difficult to diagnose. We report two cases of atrial myxoma with calcification or ossification, which are rare pathological subgroups of myxoma. CASE PRESENTATION: A 47-year-old woman and a 35-year-old man presented to our hospital with different symptoms. Both patients had a history of chronic diseases. Transthoracic and transesophageal echocardiography revealed a mass in the left or right atrium, respectively, with strong echogenicity and echogenic shadows. The masses were suspected to be malignant tumors with calcification or ossification. Contrast transthoracic echocardiography(cTEE) showed low blood supply within the lesions. The patients underwent surgical resection of the atrial mass, and the pathology confirmed myxoma with partial ossification or massive calcification. CONCLUSION: We report two rare cases of atrial myxoma with calcification or ossification and analyze their ultrasonographic features. Transthoracic echocardiography and cTEE can provide valuable information for the diagnosis and management of such mass. However, distinguishing calcification and ossification in myxoma from calcification in malignant tumors is challenging. More studies are needed to understand the pathogenesis and imaging characteristics of these myxoma variants.

Recurrence of cardiac myxoma three decades after first extraction - never say never.

.

Diagnosis and cardiac transplantation of a Carney syndrome-induced cardiac myxoma combined with dilated cardiomyopathy: a case report.

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. CASE PRESENTATION: 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.

[Right Atrial Myxoma After Catheter Ablation:Report of a Case].

An 81-year-old man underwent total arch replacement for thoracic aortic aneurysm 8 years ago and catheter ablation for paroxysmal atrial fibrillation 1 year ago. Transthoracic echocardiography revealed a mass in the right atrium, and the patient was admitted for close examination and treatment. Transesophageal echocardiography revealed a 23×17 mm large well-defined mass above the cavotricuspid isthmus. Two venous drainage cannulas were inserted directly to the superior vena cava and to the inferior vena cava via the right femoral vein, in order to avoid the direct contact with the right atrium prior to institution of cardiopulmonary bypass. The right atrial tumor was found attached to the cavotricuspid isthmus, and was resected together with the right atrial wall. Pathological examination showed myxomatous tissue. Postoperative course was uneventful. He was discharged 23 days after the operation.

Retrospective analysis of odontogenic myxoma and odontogenic myxofibroma in the oral and maxillofacial region: a fibrous tissue-related differentiation.

The clinical differences between odontogenic myxoma (OM) and odontogenic myxofibroma (OMF), and the clinical significance of their classifications, remain unclear. This study reviewed the clinicopathological characteristics of patients with OM or OMF and evaluated the fibrous component of the specimens. Medical records of 21 patients with OM or OMF who underwent tumour resection were reviewed. The percentage of fibrous tissue on the representative sections was evaluated using haematoxylin and eosin- and Masson's trichrome-stained specimens. Histopathological diagnoses included 11 OMs and 10 OMFs with no tumour recurrence except for two cases in which the dredging method was applied. More cortical bone perforation was observed in OM than in OMF cases, without significant differences. Location-locularity and apparent diffusion coefficient value (ADC)-cortical bone perforation were significantly correlated in all OM and OMF cases. The percentage of fibrous tissue in specimens showed bimodal distribution bordered by 45%. There was a significant association between diagnosis based on 45% fibrous tissue criterion and the final pathological diagnosis. Our study showed a tendency for cortical bone perforation in OM compared to OMF and correlation between ADC and cortical bone perforation. According to the histopathological analyses, the fibrous component of each case was bimodal with 45%, which may be a criterion to distinguish between OM and OMF. Accumulating knowledge, such as significant differences in prognosis, may allow for minimal surgical treatment options based on the diagnosis according to this novel histopathological criterion.

Aggressive angiomyxoma of female pelvis and perineum: Retrospective study of 17 cases.

OBJECTIVE: Aggressive angiomyxoma is an uncommon mesenchymal neoplasm characterized by a high recurrence rate, usually observed in the lower genital tract of women during their reproductive age. STUDY DESIGN: Seventeen cases of aggressive angiomyxoma confirmed by pathology from January 2007 to December 2021 in Beijing Chao-yang Hospital were included. We collected clinical data and summarized the clinical and immunohistochemical features. RESULTS: All seventeen included patients were females, aged between 23 and 57 years (mean, 37.7 years; median, 42 years). Fourteen patients were newly diagnosed and three were recurrent. The tumors were located in vulva (58.8 %), vagina (23.5 %), buttock (11.8 %), and cervix (5.9 %). The tumors size were 2 to 15 cm in greatest dimension (mean 8 ± 4.4 cm, median 6 cm). Follow-up data was available for nine patients, which ranged from 25 to 124 months (mean, 82 months; median, 80 months). At the end of follow-up, no other recurrence or metastasis was reported. Immunohistochemical analysis showed immunoreactive for estrogen (10/11) and progesterone (8/11) receptor, desmin (6/8), smooth muscle actin (4/10), and vimentin (4/4), S-100 (1/8) and CD34 (1/7). The Ki67 level was less than 5 % in five cases. CONCLUSIONS: AAM is a hormone-sensitive, distinct rare mesenchymal neoplasm with high incidence of local recurrence. Surgery is the preferred treatment, with complete resection being an essential prerequisite for minimizing the risk of recurrence.

10× single-cell sequencing revealed cellular composition heterogeneity in cardiac myxoma with malignant glandular properties.

Cardiac myxoma is the most common primary cardiac tumor in adults. The histogenesis and cellular composition of myxoma are still unclear. This study aims to reveal the role of myxoma cell components and their gene expression in tumor development. We obtained single living cells by enzymatic digestion of tissues from 4 cases of surgically resected cardiac myxoma. Of course, there was 1 case of glandular myxoma and 3 cases of nonglandular myxoma. Then, 10× single-cell sequencing was performed. We identified 12 types and 11 types of cell populations in glandular myxoma and nonglandular myxoma, respectively. Heterogeneous epithelial cells are the main components of glandular myxoma. The similarities and differences in T cells in both glandular and nonglandular myxoma were analyzed by KEGG and GO. The most important finding was that there was active communication between T cells and epithelial cells. These results clarify the possible tissue occurrence and heterogeneity of cardiac myxoma and provide a theoretical basis and guidance for clinical diagnosis and treatment.

The Role of Methylation Analysis in Distinguishing Cellular Myxoma from Low-Grade Myxofibrosarcoma.

Cellular myxoma is a benign soft tissue tumor frequently associated with GNAS mutation that may morphologically resemble low-grade myxofibrosarcoma. This study aimed to identify the undescribed methylation profile of cellular myxoma and compare it to myxofibrosarcoma. We performed molecular analysis on twenty cellular myxomas and nine myxofibrosarcomas and analyzed the results using the methylation-based DKFZ sarcoma classifier. A total of 90% of the cellular myxomas had GNAS mutations (four loci had not been previously described). Copy number variations were found in all myxofibrosarcomas but in none of the cellular myxomas. In the classifier, none of the cellular myxomas reached the 0.9 threshold. Unsupervised t-SNE analysis demonstrated that cellular myxomas form their own clusters, distinct from myxofibrosarcomas. Our study shows the diagnostic potential and the limitations of molecular analysis in cases where morphology and immunohistochemistry are not sufficient to distinguish cellular myxoma from myxofibrosarcoma, particularly regarding GNAS wild-type tumors. The DKFZ sarcoma classifier only provided a valid prediction for one myxofibrosarcoma case; this limitation could be improved by training the tool with a more considerable number of cases. Additionally, the classifier should be introduced to a broader spectrum of mesenchymal neoplasms, including benign tumors like cellular myxoma, whose distinct methylation pattern we demonstrated.

Renal Embolism Associated with the Atrial Myxoma: A Case Report and Literature Review.

Renal embolisms due to cardiac myxomas are extremely rare; the clinical course, treatment, and prognosis of this disease are not established. A 69-year-old Japanese woman who underwent a nephrectomy for renal cell carcinoma 3 years earlier was hospitalized with a right occipital lobe cerebral infarction. Her renal function suddenly worsened 3 days post-admission: her serum creatinine rose from 1.46 mg/dL to 6.57 mg/dL and then to 8.03 mg/dL the next day, and hemodialysis therapy was started. Abdominal computed tomography (CT) scans showed patchy non-contrasted low-density areas in the right kidney, and chest CT scans and transesophageal ultrasonography revealed a left atrial tumor. We diagnosed renal infarction due to a left atrial myxoma. Hemodialysis and anticoagulant therapy (heparin) were continued, followed by the cardiac myxoma's resection. The patient's renal function gradually improved post-surgery, and the hemodialysis was discontinued. Considering our patient and 19 other case reports of renal infarction associated with cardiac myxoma, the treatment for such a renal infarction and the outcomes differ depending on the embolus site. The poor outcome of abdominal aortic embolism requires a prompt embolectomy, whereas a branch renal artery embolism requires anticoagulation therapy to prevent thrombosis formation around the myxoma.

Management of left atrial myxoma in pregnant women: a case series.

BACKGROUND: Left atrial myxoma during pregnancy is rare. We present three cases in order to aid in the management. CASE PRESENTATION: Three cases of left atrial myxoma during pregnancy were presented in this article. Three patients all received multidisciplinary team work and acquired good outcomes. The case 1 had no symptoms and delivered before traditional cardiac surgery. The case 2 and case 3 undergone totally endoscopic minimally invasive cardiac surgery during pregnancy. The case 3 maintained pregnancy to term and gave birth to a healthy baby via vaginal delivery. No relapse of the tumor was observed. CONCLUSIONS: The management of left atrial myxoma during pregnancy ought to be individualized and combined with the gestational age. If the diagnosis was made in the first two trimesters of pregnancy, totally endoscopic minimally invasive cardiac surgery during pregnancy would be an optimal choice. The patients can benefit from the multidisciplinary team work.

A surgical resection case of myxoma arising from the posterior wall of the left atrium complicated with complete atrioventricular block.

An 80-year-old female was referred to our institution due to transient right upper limb weakness. Transthoracic and transesophageal echocardiography revealed a tumor in the left atrium. The tumor was attached to the posterior wall of the left atrium near the atrioventricular node. Intraoperative pathological examination revealed that the tumor was a myxoma, and complete resection was successfully performed. However, she experienced persistent complete atrioventricular block postoperatively and required pacemaker implantation.

All that Doesn't Enhance Isn't a Thrombus: Pitfalls Using Cardiac MRI TI 600 Sequence to Distinguish Between Cardiac Thrombus Versus Myxoma.

A 51-year-old male with a complicated medical history presented with shortness of breath. Preoperative workup confirmed the presence of a large atrial mass. However, delayed gadolinium enhancement CMR with long inversion time (TI 600) showed lack of enhancement, which was suggestive of a thrombus. During cardiac magnetic resonance imaging, delayed gadolinium enhancement sequences with long inversion time (TI 600) are commonly used to distinguish between an avascular thrombus versus a vascular tumor.

Acute ST-Elevation Myocardial Infarction in a Young Adult: Rare Presentation of Giant Atrial Myxoma. / Infarto com Supra-ST em Adulto Jovem: Rara Apresentação de Mixoma Atrial Gigante.

Cardiac tumors are rare entities, among which atrial myxoma (AM) stands as the most frequent, accounting for approximately half of all reported cases. The incidence of AM is estimated to range from 0.001% to 0.3% within the general population, yet only about 0.06% of these cases present with coronary embolic events. We report on a 33-year-old male smoker who experienced acute, severe precordial pain radiating to the left upper limb, lasting for one hour. The electrocardiographic evaluation demonstrated ST-segment elevation in leads D2, D3, and aVF, alongside significantly elevated serum troponin levels, confirming a diagnosis of ST-segment elevation myocardial infarction (STEMI). Subsequent coronary angiography revealed proximal occlusion of the right coronary artery due to thrombus. An initial attempt of thrombus aspiration was unsuccessful, followed by primary angioplasty with balloon inflation without stent placement. Further diagnostic exploration through transthoracic echocardiography identified a homogenous, smooth-surfaced mass measuring 5.2 cm x 2.3 cm attached to the interatrial septum. This mass, characterized by lobulations, prolapsed into the mitral valve and left ventricle during diastole, consistent with AM. Surgical resection of the mass was successfully performed, with the patient being discharged asymptomatic. In the reported case, the patient's profile, notably his age, and gender, diverges from the typical epidemiological characteristics associated with AM. This case adds to the limited number of reports where the inferior wall is affected by the right coronary artery being occluded. This report emphasizes the significance of differential diagnoses in younger patients presenting with STEMI.

Neoplasias cardíacas são raras, tendo como principal representante o mixoma atrial (MA), que corresponde a cerca de metade de todos os casos. O MA tem incidência estimada entre 0.001% e 0.3% na população em geral, no entanto apenas aproximadamente 0,06% desses cursam com eventos embólicos coronarianos. Homem de 33 anos, tabagista, admitido com quadro de precordialgia intensa e irradiação para membro superior esquerdo com duração de uma hora. O eletrocardiograma evidenciou elevação de segmento ST nas derivações D2, D3 e aVF troponina sérica elevada, confirmando infarto com supra desnivelamento do segmento ST (IAMCSST). Foi realizada cineangiocoronariografia, a qual revelou oclusão em terço proximal de artéria coronária direita por trombo. Realizada tentativa de aspiração do trombo, sem sucesso, seguido por angioplastia primária com balão sem colocação de stent. Durante a investigação do quadro, paciente realizou ecocardiograma transtorácico o qual demonstrou massa homogênea de superfície regular, de 5.2 cm x 2.3 cm, aderida ao septo interatrial, com lobulações de características emboligênicas prolapsando para valva mitral e ventrículo esquerdo na diástole, compatível com MA. Foi realizada ressecção cirúrgica com paciente evoluindo assintomático, recebendo alta para seguimento ambulatorial. O caso relatado difere em idade e sexo do perfil epidemiológico típico sendo um dos poucos descritos com acometimento da parede inferior apresentando a artéria coronária direita como culpada. Este relato ratifica a importância do diagnóstico diferencial frente às apresentações de IAMCSST em jovens.

Conjunctival myxoma: A case report and review of a rare tumor.

RATIONALE: Conjunctival myxoma is a rare benign tumor, which can mimic more common conjunctival lesions such as a cyst, lymphangioma, amelanotic nevus, neurofibroma, amelanotic melanoma, or lipoma. We describe a patient with the conjunctival myxoma, who was initially misdiagnosed as a conjunctival cyst. This case report includes intraoperative photographs and various immunohistochemical staining images. PATIENTS CONCERNS: A 55-year-old woman presented with a painless mass in the superotemporal conjunctiva of the left eye, which she had noticed 1 month ago. The patient had no previous history of trauma or eye surgery. Slit-lamp examination revealed a well-circumscribed, freely movable, pinkish, semi-translucent mass on the temporal bulbar conjunctiva, suggestive of a conjunctival cyst. DIAGNOSES: Histopathological analysis showed stellate- and spindle-shaped cells within the loose myxoid stroma, confirming a diagnosis of conjunctival myxoma. INTERVENTIONS: The conjunctival lesion was completely excised under local anesthesia. OUTCOMES: After 4 months of follow-up, the patient remained in good health without recurrence of the conjunctival lesion and no evidence of any systemic abnormality. LESSONS: Myxoma is an extremely uncommon benign tumor derived from primitive mesenchyme. Considering the rarity of the tumor and its similarity to other conjunctival tumors, diagnosis can be challenging. Ophthalmologists should consider myxoma as a possible differential diagnosis when encountering conjunctival lesions. Surgical excision is essential to confirm the diagnosis and careful systemic evaluation is required to prevent potentially life-threatening underlying systemic conditions.

Frequent protein kinase A regulatory subunit A1 mutations but no GNAS mutations as potential driver in sporadic cardiac myxomas.

PURPOSE: Cardiac myxomas (CMs) are the second most common benign primary cardiac tumors, mainly originating within the left atrium. Approximately 5% of CM cases are associated with Carney Complex (CNC), an autosomal dominant multiple neoplasia syndrome often caused by germline mutations in the protein kinase A regulatory subunit 1A (PRKAR1A). Data concerning PRKAR1A alterations in sporadic myxomas are variable and sparse, with PRKAR1A mutations reported to range from 0% to 87%. Therefore, we investigated the frequency of PRKAR1A mutations in sporadic CM using next-generation sequencing (NGS). Additionally, we explored mutations in the catalytic domain of the Protein Kinase A complex (PRKACA) and examined the presence of GNAS mutations as another potential driver. METHODS AND RESULTS: This study retrospectively collected histological and clinical data from 27 patients with CM. First, we ruled out the possibility of underlying CNC through clinical evaluations and standardized interviews for each patient. Second, we performed PRKAR1A immunohistochemistry (IHC) analysis and graded the reactivity of myxoma cells semi-quantitatively. NGS was then applied to analyze the coding regions of PRKAR1A, PRKACA, and GNAS in all 27 cases. Of the 27 sporadic CM cases, 13 (48%) harbored mutations in PRKAR1A. Among these 13 mutant cases, six displayed more than one mutation in PRKAR1A. Most of the identified mutations resulted in premature stop codons or affected splicing. In PRKAR1A mutant CM cases, the loss of PRKAR1A protein expression was significantly more common. In two cases with missense mutations, protein expression remained preserved. Furthermore, a single mutation was detected in the catalytic domain of the protein kinase A complex, while no GNAS mutations were found. CONCLUSION: We identified a relatively high frequency of PRKAR1A mutations in sporadic CM. These PRKAR1A mutations may also represent an important oncogenic mechanism in sporadic myxomas, as already known in CM cases associated with CNC.

Simultaneous surgical repair of a cardiac myxoma causing left ventricular outflow tract obstruction and a ventricular septal defect in a small dog.

Background: Cardiac myxomas are benign tumours that can occur in any heart chamber or valve. They are extremely rare in dogs. We present a novel case involving a cardiac myxoma in the left ventricular outflow tract (LVOT) and a ventricular septal defect (VSD) in a small dog. Case Description: A female miniature dachshund (age, 7 months; weight, 2.88 kg) presented with growth insufficiency, lethargy, and a cardiac murmur. Echocardiography revealed a small polypoid mass in the LVOT and a membranous VSD. Simultaneous surgeries were performed to resect the mass (aortotomy) and close the VSD (right atriotomy) using low-flow cardiopulmonary bypass with surface-cooling hypothermia and retrograde cardioplegia. The tumour was histopathologically identified as a myxoma. The dog survived with no cardiac complications for 11 years after surgery. Conclusion: To our knowledge, this is the first report of ante-mortem diagnosis and simultaneous surgical repair of a cardiac myxoma obstructing the LVOT and a VSD in a small-breed dog. In addition to describing this complicated case, this report presents what we believe is the first reported use of retrograde cardioplegia during open-heart surgery in a small-breed dog.