Radiologic-Pathologic Correlation of Cardiac Tumors: Updated 2021 WHO Tumor Classification.

Cardiac tumors, although rare, carry high morbidity and mortality rates. They are commonly first identified either at echocardiography or incidentally at thoracoabdominal CT performed for noncardiac indications. Multimodality imaging often helps to determine the cause of these masses. Cardiac tumors comprise a distinct category in the World Health Organization (WHO) classification of tumors. The updated 2021 WHO classification of tumors of the heart incorporates new entities and reclassifies others. In the new classification system, papillary fibroelastoma is recognized as the most common primary cardiac neoplasm. Pseudotumors including thrombi and anatomic variants (eg, crista terminalis, accessory papillary muscles, or coumadin ridge) are the most common intracardiac masses identified at imaging. Cardiac metastases are substantially more common than primary cardiac tumors. Although echocardiography is usually the first examination, cardiac MRI is the modality of choice for the identification and characterization of cardiac masses. Cardiac CT serves as an alternative in patients who cannot tolerate MRI. PET performed with CT or MRI enables metabolic characterization of malignant cardiac masses. Imaging individualized to a particular tumor type and location is crucial for treatment planning. Tumor terminology changes as our understanding of tumor biology and behavior evolves. Familiarity with the updated classification system is important as a guide to radiologic investigation and medical or surgical management. ©RSNA, 2024 Supplemental material is available for this article.

Nonmesothelial Spindle Cell Tumors of Pleura and Pericardium.

Spindle cell lesions of the pleura and pericardium are rare. Distinction from sarcomatoid mesothelioma, which has a range of morphologic patterns, can be difficult, but accurate diagnosis matters. This article provides practical guidance for the diagnosis of pleural spindle cell neoplasms, focusing on primary lesions.

Diffuse Large B-Cell Lymphoma With Cardiac Invasion Presented as Acute Myocardial Infarction and Left Ventricular Hypertrophy: A Case Report.

Primary cardiac lymphoma is an exceedingly rare malignant tumor, with diffuse large B-cell lymphoma (DLBCL) being the most prevalent histological subtype. This disease has non-specific clinical manifestations, making early diagnosis crucial. However, DLBCL diagnosis is commonly delayed, and its prognosis is typically poor. Herein, we report the case of a 51-year-old male patient with DLBCL who presented with recurrent chest tightness for 4 months as the primary clinical symptom. The patient was admitted to the hospital and diagnosed with acute myocardial infarction and left ventricular hypertrophy with heart failure. Echocardiography revealed a progression from left ventricular thickening to local pericardial thickening and adhesion in the inferior and lateral walls of the left ventricle. Finally, pathological analysis of myocardial biopsy confirmed the diagnosis of DLBCL. After treatment with the R-CHOP chemotherapy regimen, the patient's chest tightness improved, and he was discharged. After 2 months, the patient succumbed to death owing to sudden ventricular tachycardia, ventricular fibrillation, and decreased blood pressure despite rescue efforts. Transthoracic echocardiography is inevitable for the early diagnosis of DLBCL, as it can narrow the differential and guide further investigations and interventions, thereby improving the survival of these patients.

Primary left ventricular leiomyosarcoma: a case report.

Cardiac leiomyosarcomas are a rare subset of the already infrequent, primary malignant cardiac neoplasia spectrum. The most common site for a primary leiomyosarcoma of the ventricle is on the right with fewer than five globally reported cases in the left ventricle. Most present with non-specific symptoms but attention is usually sought after the appearance of compressive symptoms or arrhythmias. We present a case of a left ventricular leiomyosarcoma in a 50-year old female patient that had a delayed diagnosis and its subsequent surgical resection and oncological management with docetaxel and gemcitabine. This case highlights the need for a high index of suspicion for cardiac masses especially if there are competing chronic diseases with similar symptomatology. Given the rare presentation of left ventricular leiomyosarcomas, case reports may provide valuable information that is otherwise unavailable.

A rare presentation of primary cardiac myxofibrosarcoma: Case report and literature review.

BACKGROUND: Primary cardiac myxofibrosarcoma is a rare and aggressive malignancy, with the majority of approaching strategies relying on case reports. This article provides insights into its diagnosis and treatment. CASE PRESENTATION: This paper presents the case of a 40-year-old man with sudden onset hemoptysis, leading to the diagnosis of primary cardiac myxofibrosarcoma. Treatment involved open-heart surgery to excise the left atrium tumor, followed by 6 cycles of adjuvant chemotherapy. Unfortunately, brain metastasis developed, leading to the patient's death 1 year after initial diagnosis. CONCLUSION: Primary cardiac myxofibrosarcoma remains a clinical challenge with an unfavorable prognosis. Early diagnosis through advanced imaging is crucial, and research is needed to explore innovative treatments. This case underscores the complexities of managing this rare cardiac malignancy and highlights the necessity for ongoing investigations to enhance patient outcomes.

[You only ECHO Twice].

INTRODUCTION: Ischaemic stroke results from a sudden interruption of cerebral blood flow, often caused by thrombosis, embolism or hypoperfusion. Rarely, cardiac tumours are the cause of an embolic event. We report on an 80-year-old woman with a cerebral stroke. Successful thrombectomy revealed a histopathologically confirmed papillary fibroelastoma as the embolic source. Although it was not detectable on initial echocardiography, the tumour was discovered by transesophageal echocardiography. This case emphasises the importance of considering primary cardiac tumours as potential sources of emboli in ischaemic stroke. Keywords.

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.

Unusual presentation and delayed diagnosis of cardiac angiosarcoma.

BACKGROUND: Primary cardiac angiosarcomas are very rare and present aggressively with high rates of metastasis. Given the poor prognosis, particularly once disease has spread, early diagnosis and multidisciplinary treatment is essential. CASE PRESENTATION: We present the case of a 46-year-old male who presented with chest pain, intermittent fevers, and dyspnea. Workup with computed tomography scan and transesophageal echocardiography demonstrated a right atrial pseudoaneurysm. Given the concern for rupture, the patient was taken to the operating room, where resection of the pseudoaneurysm and repair using a bovine pericardial patch was performed. Histopathology report initially demonstrated perivascular lymphocyte infiltrate. Six weeks later, the patient represented with chest pain and new word finding difficulty. Workup revealed multiple solid lung, pericardial, brain, and bone nodules. Eventual biopsy of a cardiophrenic nodule demonstrated angiosarcoma, and rereview of the original pathology slides confirmed the diagnosis of primary cardiac angiosarcoma. CONCLUSIONS: Primary cardiac angiosarcomas are often misdiagnosed given the rarity of these tumors, but early diagnosis and initiation of treatment is essential. The unique presentation of our case demonstrates that clinical suspicion for cardiac angiosarcoma should be maintained for spontaneous pseudoaneurysm originating from the right atrium.

Perinatal Results and Long-Term Follow-Up of Fetal Cardiac Tumors: A 30-Year Historical Cohort Study. / Resultados Perinatais e Seguimento em Longo Prazo de Tumores Cardíacos Fetais: Estudo de Coorte Histórica de 30 Anos.

BACKGROUND: This was a 30-year retrospective cohort study that approximates closely to the natural history of cardiac tumors diagnosed in the fetus, since there was no case of pregnancy interruption. OBJECTIVE: To assess morbidity and mortality in the perinatal period and at long term in fetuses diagnosed with cardiac tumor. Our secondary objective was to assess the evaluating factors of perinatal and postnatal results. METHODS: This was a retrospective cohort study with 74 pregnant women with an echocardiographic diagnosis of fetal cardiac tumor at two referral centers between May 1991 and November 2021. A descriptive analysis was performed, and data were expressed as absolute (n) and relative (%) frequencies, median and interquartile range. Fisher's exact test was used to evaluate the association of echocardiographic characteristics and clinical manifestations with perinatal and postnatal results. Global survival was calculated using the Kaplan-Meier method and the curves were compared by the log-rank test. The time of follow-up, calculated in months, corresponded to the time elapsed from hospital discharge to current status (survived/ censoring or death). The level of significance was set at 5% (p<0.05). RESULTS: Rhabdomyoma is the most common type of cardiac tumor (85%), with a high morbidity (79.3%) and overall mortality of 17.4%. The presence of fetal hydrops was a predictor of death. CONCLUSION: The presence of fetal hydrops had an impact on mortality, and hence is an important factor in counselling and determining the prognosis. Most deaths occurred before hospital discharge.

FUNDAMENTO: Seguimento de coorte retrospectiva de 30 anos que se aproxima da história natural dos tumores cardíacos diagnosticados no feto uma vez que nenhum caso foi submetido à interrupção da gestação. OBJETIVO: Avaliar a morbidade e mortalidade perinatal e em longo prazo em fetos com diagnóstico de tumor cardíaco. Como objetivo secundário avaliar os fatores que influenciaram os resultados perinatais e pós-natais. MÉTODO: Estudo de coorte retrospectiva envolvendo 74 gestantes com diagnóstico ecocardiográfico fetal de tumor cardíaco acompanhadas em dois serviços de referência no período de maio de 1991 a novembro de 2021. Foi realizada análise descritiva dos dados por meio de frequências absolutas (n) e relativas (%), mediana e intervalos interquartis. Para avaliar a associação entre as características ecocardiográficas e as manifestações clínicas com os resultados perinatais e pós-natais, foi aplicado o teste exato de Fisher. O cálculo da sobrevida global foi realizado pelo método de Kaplan-Meier e a comparação de curvas pelo teste de log-rank. O tempo de seguimento, calculado em meses, foi definido a partir da data de alta do hospital à data do status atual (vivo/censura ou óbito). O nível de significância considerado foi de 5% (p<0,05). RESULTADOS: o rabdomioma é o tipo mais frequente (85%) de tumor cardíaco; apresenta alta morbidade (79,3%) e mortalidade geral de 17,4%; a presença de hidropisia fetal preditiva de óbito. CONCLUSÃO: A presença de hidropisia fetal teve impacto na mortalidade, sendo fator importante para aconselhamento e estabelecimento de prognóstico. A maioria dos óbitos ocorrem antes da alta hospitalar.

Resolving the heterogeneous tumour microenvironment in cardiac myxoma through single-cell and spatial transcriptomics.

BACKGROUND: Cardiac myxoma (CM) is the most common (58%-80%) type of primary cardiac tumours. Currently, there is a need to develop medical therapies, especially for patients not physically suitable for surgeries. However, the mechanisms that shape the tumour microenvironment (TME) in CM remain largely unknown, which impedes the development of targeted therapies. Here, we aimed to dissect the TME in CM at single-cell and spatial resolution. METHODS: We performed single-cell transcriptomic sequencing and Visium CytAssist spatial transcriptomic (ST) assays on tumour samples from patients with CM. A comprehensive analysis was performed, including unsupervised clustering, RNA velocity, clonal substructure inference of tumour cells and cell-cell communication. RESULTS: Unsupervised clustering of 34 759 cells identified 12 clusters, which were assigned to endothelial cells (ECs), mesenchymal stroma cells (MSCs), and tumour-infiltrating immune cells. Myxoma tumour cells were found to encompass two closely related phenotypic states, namely, EC-like tumour cells (ETCs) and MSC-like tumour cells (MTCs). According to RNA velocity, our findings suggest that ETCs may be directly differentiated from MTCs. The immune microenvironment of CM was found to contain multiple factors that promote immune suppression and evasion, underscoring the potential of using immunotherapies as a treatment option. Hyperactive signals sent primarily by tumour cells were identified, such as MDK, HGF, chemerin, and GDF15 signalling. Finally, the ST assay uncovered spatial features of the subclusters, proximal cell-cell communication, and clonal evolution of myxoma tumour cells. CONCLUSIONS: Our study presents the first comprehensive characterisation of the TME in CM at both single-cell and spatial resolution. Our study provides novel insight into the differentiation of myxoma tumour cells and advance our understanding of the TME in CM. Given the rarity of cardiac tumours, our study provides invaluable datasets and promotes the development of medical therapies for CM.

Rare primary cardiac myxofibrosarcoma in adolescence: Diagnostic challenges and surgical insights.

This article presents a unique case of primary myxofibrosarcoma, an exceptionally rare cardiac neoplasm, in a 16-year-old girl. With fewer than 40 documented cases, this tumor's occurrence in adolescence is particularly uncommon. The patient presented with right-sided paresthesia and subsequent right hemiparesis and dysarthria, along with bilateral pleural effusion. Imaging tests revealed a cerebral ischemic lesion and the presence of a left atrial mass. Initially suspected as a myxoma, the tumor exhibited significant infiltration. Despite prompt excision and cardiac intervention, the patient experienced rapid decompensation and succumbed to heart failure 2 days later. Histopathological analysis revealed an intermediate grade myxofibrosarcoma. This case underscores the diagnostic complexity, emphasizing the need for early identification given the grim prognosis associated with cardiac myxofibrosarcomas, requiring detailed imaging, surgical, and histopathological insights.

Primary cardiac rhabdomyosarcoma in a mitral valve involved with rheumatic disease.

A 51-year-old female underwent emergency mitral valve replacement for mitral stenosis with an undetermined mass which was attached to the anterior mitral leaflet. Histopathological testing of the excised specimen confirmed the diagnosis of rheumatic mitral disease in combination with a primary rhabdomyosarcoma. Postoperative adjuvant chemotherapy with pazopanib hydrochloride was given. At 10 months of follow-up, repeated computed tomographic screening has not shown any signs of local recurrence or secondary metastases. The potential for the existence of primary rhabdomyosarcomas should be borne in mind when faced with undetermined masses on mitral leaflets, even in the presence of rheumatic disease.

Variations in subtle cystic tumors of the atrioventricular node: Five autopsy cases.

Cystic tumor of the atrioventricular node (CTAVN) is the most common primary cardiac tumor cause of sudden death but is rarely found during forensic autopsy. We present five autopsy cases of sudden death from undiagnosed CTAVN. The tumors varied in their histological appearance, which may be related to their variation in clinical presentation. Some of the cases had been diagnosed with epilepsy before death; it seems that syncopal attacks caused by CTAVN may be misdiagnosed as epilepsy. When performing forensic autopsy, CTAVN should be considered in the differential diagnosis of sudden death. Careful examination of the cardiac conduction system is important in every sudden death case regardless of age.

Carney complex: A clinicopathologic study on a single family from several Canadian provinces.

Carney syndrome is an autosomal dominant complex involving endocrinopathy, mucocutaneous hyperpigmentation, and different tumors, including cardiac myxomas. We report on a single family with several members affected with Carney syndrome. Family and individual medical histories were investigated in several Canadian provinces. The histology slides were also reviewed. Four family members (two young women, both sisters, their mother, and maternal grandmother) were found to harbor Carney syndrome. Everyone was presented with multiple and recurrent atrial myxomas of the heart, requiring multiple open cardiac surgeries. Breast myxomas and cutaneous hyperpigmentation were also revealed in one of the sisters and their mother. Interestingly, genetic testing was positive for the female family members and negative for the father and brother. We cannot rule out that the brother may have had a new mutation or harboring a mosaic. The young woman's brother did not have cardiac myxoma but developed a unilateral Sertoli cell tumor of testis. Carney syndrome is a rare complex multisystemic genetic disorder, including multiple and recurrent cardiac myxomas. We strongly suggest that reporting familial Carney syndrome is still critical in the 21st century to augment the awareness of this situation among clinicians and pathologists.

Unraveling the challenges of intravenous leiomyomatosis: a retrospective analysis of 11 cases.

OBJECTIVE: This study provides a concise overview of diagnostic and treatment strategies for intravenous leiomyomatosis (IVL), a rare disease with nonspecific clinical manifestations, based on cases from a tertiary referral hospital in China. METHODS: We retrospectively analyzed 11 premenopausal patients with confirmed IVL between 2018 and 2022. Clinical data from Ultrasound, Enhanced CT, and MRI were studied, along with surgical details, postoperative pathology, and follow-up information. RESULTS: Premenopausal patients showed no disease-specific symptoms, with 90.9% having a history of gynecological or obstetric surgery, and 72.7% having prior uterine fibroids. Cardiac involvement was evident in two cases, with echocardiography detecting abnormal floating masses from the inferior vena cava. Pelvic ultrasound indicated leiomyoma in 90.9% of cases, with ≥ 50 mm size. Surgery was the primary treatment, and lesions above the internal iliac vein resulted in significantly higher intraoperative blood loss (median 1300 ml vs. 50 ml, p = 0.005) and longer hospital stays (median 10 days vs. 4 days, p = 0.026). Three patients with lesions above the inferior vena cava required combined surgery with cardiac specialists. Recurrence occurred in 2 out of 11 patients with incomplete lesion resection. CONCLUSIONS: IVL mainly affects premenopausal women with uterine masses, primarily in the pelvic cavity (Stage I). Pelvic ultrasound aids early screening, while Enhanced CT or MR assists in diagnosing and assessing venous lesions. Complete resection is crucial to prevent recurrence. Lesions invading the internal iliac vein and above pose higher risks during surgery. A multidisciplinary team approach is essential for patients with lesions above the inferior vena cava, with simultaneous surgery as a potential treatment option.

Surgical treatment of primary cardiac tumors in children.

OBJECTIVE: Summarizing the treatment experience of primary cardiac tumors in children. METHODS: The date of 24 children with primary cardiac tumors who underwent surgery in our department from July 2003 to September 2022 was collected and analyzed treatment efficacy. RESULTS: All patients completed the surgery successfully, including 21 cases of complete tumor resection, 2 cases of partial tumor resection, and 1 case of tumor biopsy. The location: 5 cases in the right atrium, 5 cases in the right ventricle, 6 cases in the left atrium, 6 cases in the left ventricle, 1 case in the left, right ventricle and ventricular septum, and 1 case in the ventricular septum. 23 cases were benign: 11 cases of myxoma, 7 cases of fibroma, 3 cases of rhabdomyoma, 1 case of infantile capillary hemangioma, and 1 case of lipoma. There was 1 case of borderline or malignant tumor. 23 patients were discharged successfully, 1 patient died of cardiac failure on the first day after operation. Follow-up was done from 5 months to 19 years and 2 months, 2 cases were lost to follow-up, and 1 case died of cardiac failure in the second year after operation due to severe mitral regurgitation. There was 1 case of tumor biopsy with space-occupying lesion gradually shrinking during follow-up. The prognosis of another 19 children with complete or partial tumor resection was good. There was no recurrence, enlargement, or reoperation of the tumor during the follow-up period. CONCLUSIONS: Primary cardiac tumors in children are mostly benign. Surgery is effective, but the timing of surgery depends on the patient's condition.

Cardiac myxomas: causes, presentations, diagnosis, and management.

Cardiac myxomas (CM) are one of the most common benign tumors which are typical in adults with a yearly incidence of 0.5-1 case per million individuals. This review article includes discussions based on existing literature on the role of interleukin interactions in the pathophysiology of cardiac myxoma which can lead to embolic complications, aneurysms, and CNS involvement. The objective of this narrative review was to study the variable clinical presentations of cardiac myxoma, its detection and diagnosis involving multiple modalities like genetic and hematological testing, echocardiography, CT, and MRI, of which transoesophageal echocardiogram shows excellent precision with a 90% to 96% accuracy in diagnosing CM. Individuals with the Carney complex are prone to such neoplasia. Cardiac myxomas are challenging to diagnose due to the ambiguity of their differential with thrombi. Myxomas can also be diagnosed by tumor markers like interleukin-6 and endothelial growth factors. The management of CM includes surgical excision like median sternotomy and robotic minimally invasive surgery. The use of robotic surgery in CM increased from 1.8% in 2012 to 15.1% in 2018. Tumor recurrences are uncommon but can occur due to inadequate surgical resection.