Cardiac Hamartoma: A Diagnostic Challenge.
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ABSTRACT:
SUBMITTER: Abuzaid AS
PROVIDER: S-EPMC6034476 | biostudies-other | 2017 Apr
REPOSITORIES: biostudies-other
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Project description:Cardiac angiosarcomas are a rare group of soft tissue sarcomas, characterized by aggressive local growth and early spread. Because this is an uncommon disease, there is currently no standard treatment approach. When localized, surgery appears to lead to the best outcomes, but this can be technically challenging and not always feasible. Upfront chemoradiotherapy provides an alternative that may shrink the tumor to enable definitive surgical resection. We report a case of primary cardiac angiosarcoma with a complete metabolic and pathological response after upfront chemoradiotherapy with paclitaxel, who then underwent surgery, as a potential treatment option for patients with this rare condition. <Learning objective: Cardiac angiosarcoma can present with non-specific symptoms and signs making early diagnosis difficult. When localized, surgery provides the best survival outcomes for patients, but may not be possible due to the extent of invasion into surrounding critical structures. In this case of locally advanced disease in a young patient, there was the opportunity to treat this tumor aggressively with upfront combined chemoradiotherapy followed by surgery, with a dramatic response observed.>.
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Project description:BackgroundPrimary cardiac lymphoma is an extra-nodal non-Hodgkin's lymphoma, which usually responds well to chemotherapy. The disease has high mortality rate unless it is recognized and treated in time. Tissue pathology is crucially the diagnosis gold standard for treatment plan. This is a case report of an elderly female who presented with a huge right-sided cardiac tumour obstructing tricuspid flow.Case summaryAn 81-year-old Asian female presented with clinical right-sided heart failure. Echocardiogram showed a large mass compressing and obliterating the right atrium. Trans-jugular tissue biopsy was performed. Initial pathology report was consistent with an angiosarcoma, based on an expression of Fli-1 (Friend leukaemia virus integration 1) from immunohistochemical staining. She died shortly after refusal to surgery. Autopsy was performed with diagnosis change to a diffuse large B-cell lymphoma (DLBCL) after tissue pathology.DiscussionPrimary cardiac lymphoma is extremely rare. Adequate tissue and proper immunohistochemical staining are mandatory for treatment plan. Besides an angiosarcoma, DLBCL should be considered in the differential diagnosis of Fli-1 positive tissue cardiac mass.
| S-EPMC7649445 | biostudies-literature
Project description:IntroductionHamartoma is a tumor that can manifest anywhere in the body and results in the abnormal formation of tissue native to the anatomical location. It is usually a benign tumor that rarely arises from the heart or pericardium. Most of the cases are asymptomatic and discovered incidentally during the evaluation of other medical conditions.Presentation of caseWe present a case of a 65-year-old female with dyspnea who was diagnosed with a mediastinal mass. After removing the mass surgically, the mass was found to be heart-like containing four chambers located in the pericardium, and a pathology report of a connective tissue hamartoma.ConclusionPericardial tumors including hamartoma should be considered in all patients with wide mediastinum and cardiopulmonary symptoms. We also present a review of the literature on the cardiac and pericardial hamartomas with a comparison of age, gender, location, symptoms, and management. Although cardiac hamartomas in general and epicardial hamartomas, in particular, are extremely rare, they should be considered in adults with cardiopulmonary symptoms and widened mediastinum.
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Project description:BackgroundPrimary cardiac tumours are rare and the majority are benign; of those that are malignant sarcomas are the most common and have a poor prognosis. Genomic sequencing of tumours has permitted targeted treatments in other tumour types such as leukaemia and non-small cell lung cancer. These targeted treatments such as tyrosine kinase inhibitors and cyclin-dependent kinase 4 (CDK-4) inhibitors are effective and better tolerated than chemotherapy options. Our case highlights their potential use in cardiac tumours.Case summaryAn 18-year-old female patient presented with severe dyspnoea and sinus tachycardia. A computed tomography chest scan identified a large filling defect within the left atrium consistent with a cardiac tumour. The mass was surgically excised and confirmed to be an undifferentiated pleomorphic sarcoma. Treatment was with doxorubicin and ifosfamide. Tumour genome sequencing was undertaken revealing an amplification of 12q including CDK-4 identifying Palbociclib (a CDK-4 inhibitor) as a potential innovative future therapeutic option in the case of failure of first-line therapy. The patient made a full recovery with no evidence of recurrence at 30 months.DiscussionCardiac tumours are often identified during investigations for other conditions as their non-specific symptoms mimic other conditions, and a high degree of suspicion is required to diagnose them. To date Palbociclib is not yet licenced for use in cardiac sarcomas. It has been shown to be more tolerable that chemotherapy in breast cancer and offers a viable alternative therapy in cardiac sarcomas. More importantly this case demonstrates the importance of tumour genomic sequencing in identifying tumour-specific mutations that can be targeted.
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Project description:Highlights•Primary cardiac tumors, although rare, represent a wide differential diagnosis.•It is often difficult to decipher the type of tumor from imaging alone.•This case highlights imaging modalities to plan surgical removal of cardiac masses.
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Project description:The antiphospholipid syndrome (APS) is an acquired autoimmune thrombophilic disorder that is characterized by thrombosis (venous, arterial and microvascular) and obstetric morbidity due to a diverse family of antibodies against phospholipid-binding proteins present in plasma. The term antiphospholipid antibody is actually a misnomer as the antibodies are not against the phospholipid per se, but target the plasma protein co-factors, which bind to anionic PLs. The exact etiology has not been elucidated and is multifactorial. The initial guidelines for the diagnosis of APS were laid down in Sapporo, 1999, which were subsequently revised as the Sydney Consensus Conference criteria in 2006. Major changes were the inclusion of ?2GPI as independent laboratory criteria, addition of ischemic stroke and transient cerebral ischemia as established clinical criteria and the requirement of repeating the test after 12 weeks. The laboratory tests recommended are coagulation assays, which study the effect of lupus anticoagulant on the clotting time and immunological assays, mostly ELISAs to detect IgG and IgM antibodies against cardiolipin and/or ?2 glycoprotein I. For the diagnosis of APS, at least one clinical criterion and one laboratory criterion should be present. Limitations pertaining to the standardization, reproducibility and robustness of the currently recommended diagnostic tests still remain. Despite elaborate guidelines and syndrome defining criteria, the diagnosis of APS still remains a challenge. A greater interaction between the clinicians and the laboratory professionals is necessary for arriving at the correct diagnosis as a misdiagnosis of APS can have grave consequences.
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Project description:IntroductionPrimary cardiac lymphoma accounts for <2% of all primary cardiac tumours. It is uncommon in immunocompetent patients, often fatal and diagnosed at autopsy. Tumour usually involves the right heart chambers and pericardium. With advances in imaging, early diagnosis is possible and treatment including chemotherapy and surgery affords good prognosis.Case presentationWe present a 50-year-old woman with abdominal pain and fevers for 5 days. Computed tomography of the abdomen showed splenic and renal infarcts but no mass or vegetation was noted on echocardiography. Thoracic computed tomography divulged a large left ventricular filling defect. Cardiac magnetic resonance imaging delineated a 3.5?×?4.5?cm anterobasal mass with frond-like projections and endocardial invasion without extracardiac involvement suggestive of a low-vascularity tumour. Echo-guided endomyocardial biopsy and minithoracotomy with needle biopsy were inconclusive. A sarcoid-protocol cardiac positron emission tomography-fluorodeoxyglucose scan showed focally elevated uptake in the basal anteroseptum without extracardiac uptake, supporting a malignant entity. This prompted open heart mass resection. Pathology revealed diffuse large B-cell lymphoma.DiscussionOur case is a unique report of cardiac lymphoma isolated to the left ventricle. Location of the tumour and lack of specific imaging characteristics made it a diagnostic challenge. It underscores the importance of including lymphoma in the differential for intracardiac masses as it is responsive to chemotherapy. Additionally, it emphasizes the complementary role of imaging modalities and multidisciplinary team approach in diagnosis. Early diagnosis and therapy is the key to establishing successful outcomes.
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Project description:This study aimed to call attention to hypercalcemia, a rare finding in children which carries the potential of leading to serious complications without proper intervention.Diagnosis, treatment, and clinical course of children with sustained hypercalcemia admitted between the years 2006-2016 were reviewed. Group 1 [parathyroid hormone (PTH)-dependent] consisted of patients with high/unsuppressed PTH levels and group 2 (PTH-independent) included cases with normal/suppressed PTH levels.Twenty patients (11 male, 9 female) with a median age of 6.25 (0.03-17.88) years were evaluated. Symptoms were mostly related with the gastrointestinal system, while six patients (30%) were asymptomatic. Physical examination findings were diverse, non-specific, and normal in four patients (20%). Median time of diagnosis was 45 (2-720) days. Patients were divided into group 1 (n=7) and group 2 (n=13). Most frequent etiologies were primary hyperparathyroidism (n=5), idiopathic infantile hypercalcemia (IIH) (n=5), and malignancy (n=4). A moderate positive correlation was noted between serum calcium and creatinine levels (r=0.53, p=0.02). Nephrocalcinosis was the most common complication (n=9) (45%). Treatment was not implemented in 2 patients with mild hypercalcemia, while other patients received medical treatment ± surgery. Treatment-resistant patients were cases of malignancies and neonatal severe hyperparathyroidism. Long-term follow-up displayed resistant hypercalciuria in three infants diagnosed as IIH.Many patients with childhood hypercalcemia are asymptomatic or exhibit a non-specific and heterogeneous clinical presentation, resulting in delayed diagnosis. Mild cases may not be recognized, while symptoms may be missed in the presence of accompanying illnesses. Nevertheless, serious complications may only be avoided with prompt diagnosis and intervention.
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Project description:Introduction Left atrial thrombus is a rare finding in a neonate. In the previous literature, atrial thrombi have been associated with catheter placement or congenital heart disease in a preterm infant. Case We report the case of a full-term neonate with no known risk factors found to have a left atrial thrombus. The neonate was born at 38 weeks' gestation to a 31-year-old female via cesarean section who was sent to the normal nursery. On postnatal day 5, the infant was noted to have low-to-medium level of oxygen saturations (∼90%) and was transferred to the neonatal intensive care unit with an echocardiogram completed on postnatal day 6 demonstrating a mobile, pedunculated mass attached to the left atrial septum with an appearance concerning for atrial myxoma. The infant underwent surgical resection on postnatal day 8 and pathology revealed the mass to be a left atrial thrombus. Discussion The rare finding of an atrial thrombus in a neonate has previously been associated with central venous catheter placement or congenital heart disease. This case is unusual in that the patient had neither condition. Although echocardiogram findings appeared more consistent with atrial myxoma, final pathology revealed a left atrial thrombus. Additionally, hypercoagulability work-up for this neonate was largely negative. This report underscores the importance of identification, search for etiology, and prompt therapy to prevent potential catastrophic outcomes.
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Project description:Introduction:Dengue fever is a major public health problem in New Caledonia, like in many Pacific Islands Countries and territories. In 2017 New Caledonia faced multiple circulations of arboviruses with a major outbreak of dengue and a co-circulating Zika virus. New Caledonia is considered as a non-endemic territory for measles since the mid 1990's. Case presentation:A 41-year-old male presented fever, headache, sinusitis and exanthematous maculopapular rash. A clinical diagnosis of arbovirus was first suspected due to the local epidemic context. A few days later the patient was admitted to the main hospital. The real time RT-PCR for dengue and Zika virus were negative on the first blood sample. A drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome and other infectious diseases including measles were then suspected. ELISA tests for measles were positive for IgM and equivocal for IgG. A throat swab was immediately shipped to a reference laboratory for measles nucleic acid testing. After a week, the patient recovered and the presence of measles RNA was confirmed. No secondary cases were reported among contacts of the patient and the source of his infection could not be ascertained. Conclusion:Diagnosis of measles during an arbovirus outbreak in a country where measles disease is rare can be a pitfall for healthcare professionals. The introduction of measles via returned travellers or tourists from areas where measles remains endemic is a real threat to countries with high vaccine coverage.
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