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Anatolian Journal of Cardiology Mar 2017A cardiac myxoma may manifest as miscellaneous and uncharacteristic presentations. These unusual aspects of cardiac myxomas can be rare clinical presentations, special... (Review)
Review
A cardiac myxoma may manifest as miscellaneous and uncharacteristic presentations. These unusual aspects of cardiac myxomas can be rare clinical presentations, special patient populations, unusual locations, and special pathology, which may lead to a delayed diagnosis, improper checkups, and subsequent untimely treatment, eventually resulting in unexpected poor prognosis. Therefore, the diagnosis of cardiac myxomas can be challenging because of these unusual aspects. In order to get a better understanding of a cardiac myxoma and to facilitate an early diagnosis and proper treatment, the unusual aspects of cardiac myxomas are described here.
Topics: Heart Neoplasms; Humans; Myxoma
PubMed: 28321109
DOI: 10.14744/AnatolJCardiol.2017.7557 -
The New England Journal of Medicine Oct 2018
Topics: Dyspnea; Echocardiography; Female; Heart Atria; Heart Neoplasms; Humans; Middle Aged; Myxoma; Tachycardia, Sinus
PubMed: 30332570
DOI: 10.1056/NEJMicm1802693 -
Communications Biology Jul 2023Cardiac myxoma (CM) is the most common benign cardiac tumor, and most CMs are left atrial myxomas (LAMs). Six variations of KIF1C, c.899 A > T, c.772 T > G,...
Cardiac myxoma (CM) is the most common benign cardiac tumor, and most CMs are left atrial myxomas (LAMs). Six variations of KIF1C, c.899 A > T, c.772 T > G, c.352 A > T, c.2895 C > T, c.3049 G > A, and c.*442_*443dup in left atrial myxoma tissues are identified by whole-exome sequencing (WES) and Sanger sequencing. RNA-seq and function experiments show the reduction of the expression of KIF1C and PRKAR1A caused by rare variations of KIF1C. KIF1C is observed to be located in the nucleus, bind to the promoter region of PRKAR1A, and regulate its transcription. Reduction of KIF1C decreases PRKAR1A expression and activates the PKA, which causes an increase in ERK1/2 phosphorylation and SRC-mediated STAT3 activation, a reduction of CDH1, TP53, CDKN1A, and BAX, and eventually promotes tumor formation both in vitro and in vivo. The results suggest that inhibition of KIF1C promotes the pathogenesis of LAM through positive feedback formed by the crosstalk between KIF1C and PRKAR1A.
Topics: Humans; Atrial Fibrillation; Myxoma; Heart Neoplasms; Phosphorylation; Kinesins; Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
PubMed: 37452081
DOI: 10.1038/s42003-023-05094-5 -
Acta Ortopedica Mexicana 2021Mazabraud syndrome was first described in 1926 by Henschen, consisting of the association between bone fibrodysplasia and one or more intramuscular myxomas. The study...
Mazabraud syndrome was first described in 1926 by Henschen, consisting of the association between bone fibrodysplasia and one or more intramuscular myxomas. The study paper conducted by Mazabraud et al. in 1967, described an association between the two pathologies. Later literature referred to this relationship with the eponym described above. In this report, we present the case of a 43-year-old female patient with a known diagnosis of bone fibrodysplasia and subsequent development of a right antecubital fossa mass, which was histologically confirmed as intramuscular myxoma. After the removal of the tumor, the literature was reviewed to find a possible relationship between myxomas and fibrous bone dysplasia, finding positive the association, referred to in the documents reviewed as Mazabraud syndrome.
Topics: Adult; Female; Fibrous Dysplasia of Bone; Fibrous Dysplasia, Polyostotic; Humans; Magnetic Resonance Imaging; Muscle Neoplasms; Myxoma; Syndrome
PubMed: 34731928
DOI: No ID Found -
Kardiologia Polska Apr 2020Cardiac myxoma is the most common benign cardiac tumor. It is located in the left atrium and typically arises from the foramen ovale in approximately 75% of the general... (Review)
Review
Cardiac myxoma is the most common benign cardiac tumor. It is located in the left atrium and typically arises from the foramen ovale in approximately 75% of the general patient population, in the right atrium in 23%, and in the ventricles in only 2%. Symptoms depend on its size, mobility, and relation to surrounding cardiac structures. Neurological complications resulting from cardiac myxoma are seen in 20% to 25% of patients. Molecular genetic studies show that the condition can be inherited in Carney complex due to mutations of the PRKAR1A gene. Cardiac myxoma resection is a cardiac surgery with a low complication rate and the 30‑day mortality of up to 10%. Recurrence may be observed months or years after surgery, and its rate is approximately 5%. Long‑term follow‑up with transthoracic echocardiography is needed in all patients after tumor resection. This review summarizes the available data on cardiac myxoma and, in particular, issues relating to diagnosis and treatment.
Topics: Carney Complex; Heart Atria; Heart Neoplasms; Humans; Myxoma; Neoplasm Recurrence, Local
PubMed: 32207702
DOI: 10.33963/KP.15254 -
Scientific Reports Jul 2022To describe the presentation, histopathological characteristics, and management outcomes for corneal myxoma. This one-armed cohort study evaluated histologically...
To describe the presentation, histopathological characteristics, and management outcomes for corneal myxoma. This one-armed cohort study evaluated histologically confirmed consecutive cases of corneal myxoma. Data were evaluated on demographics, clinical presentation, management, histopathological and immunohistochemical features, and outcomes; visual acuity and corneal clarity. The study sample was comprised of 10 eyes (10 patients). The median age at presentation was 10.5 years. Five eyes had high intraocular pressure, four eyes had decreased distance visual acuity and one eye became discolored. Surgical management included penetrating keratoplasty (8 eyes), phototherapeutic keratectomy (1 eye), and evisceration because of a blind painful eye (1 eye). Postoperative best-corrected distance vision ranged from 20/20 to 20/60 (1 eye), < 20/60 to 20/200 (2 eyes), < 20/200 to 20/400 (1 eye), < 20/200 to light perception (4 eyes) and no light perception (1 eye). The histopathology of these lesions showed typical subepithelial proliferating spindle-shaped cells of mesenchymal origin within a myxoid stroma rich in glycosaminoglycan. The median duration of follow-up was 5 years. Recurrence was observed in an eye that underwent local excision. Corneal myxoma is a rare lesion that is presumably isolated, secondary, and reactive in nature. Surgically management yields reasonably favorable outcomes.
Topics: Blindness; Cohort Studies; Follow-Up Studies; Humans; Lasers, Excimer; Myxoma; Photorefractive Keratectomy
PubMed: 35778593
DOI: 10.1038/s41598-022-15475-1 -
International Journal of Molecular... Jan 2014Cardiac tumors are rare, and of these, primary cardiac tumors are even rarer. Metastatic cardiac tumors are about 100 times more common than the primary tumors. About... (Review)
Review
Cardiac tumors are rare, and of these, primary cardiac tumors are even rarer. Metastatic cardiac tumors are about 100 times more common than the primary tumors. About 90% of primary cardiac tumors are benign, and of these the most common are cardiac myxomas. Approximately 12% of primary cardiac tumors are completely asymptomatic while others present with one or more signs and symptoms of the classical triad of hemodynamic changes due to intracardiac obstruction, embolism and nonspecific constitutional symptoms. Echocardiography is highly sensitive and specific in detecting cardiac tumors. Other helpful investigations are chest X-rays, magnetic resonance imaging and computerized tomography scan. Surgical excision is the treatment of choice for primary cardiac tumors and is usually associated with a good prognosis. This review article will focus on the general features of benign cardiac tumors with an emphasis on cardiac myxomas and their molecular basis.
Topics: Biomarkers; Heart Neoplasms; Humans; Myxoma
PubMed: 24447924
DOI: 10.3390/ijms15011315 -
European Annals of Otorhinolaryngology,... Sep 2014Maxillary bone myxoma is a rare benign mesenchymal tumor, slow-growing but locally aggressive. Pathogenesis remains disputed.
INTRODUCTION
Maxillary bone myxoma is a rare benign mesenchymal tumor, slow-growing but locally aggressive. Pathogenesis remains disputed.
OBJECTIVE
To study the clinical, radiological and histological features and treatment of maxillary myxoma, based on a pediatric case report.
CASE REPORT
An infant of two and a half months presented with endonasal tumor extending to ethmoid. Surgical excision was performed on an endonasal approach. Myxoma was diagnosed by histologic examination of the surgical specimen, whereas initial biopsy had suggested fibrous dysplasia. No recurrence was observed after two and a half years' surveillance.
CONCLUSION
Positive diagnosis of maxillary myxoma is histological. Treatment is primarily surgical. Strict long-term surveillance is required because of the high risk of recurrence.
Topics: Humans; Infant; Maxillary Neoplasms; Myxoma
PubMed: 24139787
DOI: 10.1016/j.anorl.2013.04.004 -
Indian Journal of Ophthalmology Sep 2017Myxomas are rare neoplasms of mesenchymal origin. Cases of conjunctival, corneal, and orbital myxomas have been reported in the literature; however, to the best of our...
Myxomas are rare neoplasms of mesenchymal origin. Cases of conjunctival, corneal, and orbital myxomas have been reported in the literature; however, to the best of our knowledge, there is no report of a lacrimal gland myxoma. We report a case of an orbital myxoma involving the lacrimal gland and its management.
Topics: Aged; Biopsy; Diagnosis, Differential; Eye Neoplasms; Humans; Lacrimal Apparatus; Male; Myxoma; Ophthalmologic Surgical Procedures; Tomography, X-Ray Computed
PubMed: 28905841
DOI: 10.4103/ijo.IJO_226_17 -
International Journal of Cardiology Mar 2013Cardiac myxomas are rare benign and slowly proliferating neoplasms of uncertain histogenesis with heterogeneous histomorphology and variable and sometimes clinically... (Review)
Review
Cardiac myxomas are rare benign and slowly proliferating neoplasms of uncertain histogenesis with heterogeneous histomorphology and variable and sometimes clinically quite malignant pathological manifestations. Majority of cardiac myxoma occur sporadically while a relatively small proportion of diagnosed cases develop as a part of Carney complex syndrome with established familial pattern of inheritance. Although histologically indistinguishable these two forms of cardiac myxoma exhibit distinct cytogenetic make-up and apparent pathological differences important for their clinical presentation and prognosis. Additional problem is presented with secondary lesions with more aggressive histology and significantly faster cell proliferation suggesting their successive malignant alteration. Surgical resection of cardiac myxoma is currently the only treatment of choice. However, to avoid potentially hazardous operating procedures and possible postoperative complications and to prevent recurrence of the neoplastic lesions it is necessary to develop alternative approaches and identify a possible drug targets for their successful pharmacological treatment. Due to the rarity of the disease, a small number of cases in one institution and lack of comprehensive experimental data particularly concerning the cases of metastatic dissemination and secondary lesions with malignant nature, a comprehensive multi-institutional approach is required for better understanding of their molecular pathology and illumination of key molecular, genetic as well as epigenetic markers and regulatory pathways responsible for their development. In this article we provide comprehensive pathohistological, molecular and cytogenetic overview of sporadic cardiac myxoma cases restating the major hypothesis concerning their histogenesis and emphasizing potential approaches for their further reexamination.
Topics: Diagnosis, Differential; Heart Neoplasms; Humans; Microarray Analysis; Molecular Diagnostic Techniques; Myxoma; Neoplasm Recurrence, Local
PubMed: 22243936
DOI: 10.1016/j.ijcard.2011.12.052