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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 -
Saudi Medical Journal Sep 2022A cardiac myxoma is a rare tumor that could be incidental or present with common symptoms due to embolization. A minority of cases are attributed to carney complex, a...
A cardiac myxoma is a rare tumor that could be incidental or present with common symptoms due to embolization. A minority of cases are attributed to carney complex, a rare inherited disease. A 73-year-old Asian male presented with acute left-side weakness, slurred speech, gait imbalance, and subacute constitutional symptoms. Left atrial myxoma was discovered by computed tomography and confirmed by echocardiography. Brain imaging revealed pituitary macroadenoma with subarachnoid and intraventricular hemorrages. The hormonal profile confirmed pituitary apoplexy, for which hormone replacement was initiated. Workup also revealed multiple endocrine tumors and excluded infection and malignancy. Myxoma resection could not be carried out, due to the patient's rapid clinical deterioration and death.Furthermore, the presence of cardiac myxoma, non-functioning pituitary macroadenomas, and pituitary apoplexy is extremely rare and rarely documented in the literature. Therefore, we emphasize clinical awareness of rare conditions with atypical presentations to improve outcomes.
Topics: Aged; Carney Complex; Heart Neoplasms; Humans; Male; Myxoma; Pituitary Apoplexy; Pituitary Neoplasms
PubMed: 36104063
DOI: 10.15537/smj.2022.43.9.20220346 -
World Journal of Cardiology Apr 2022Cardiac myxomas are common primary neoplasms of the heart. They are biologically benign but "functionally malignant" because of the potential for embolization. They... (Review)
Review
Cardiac myxomas are common primary neoplasms of the heart. They are biologically benign but "functionally malignant" because of the potential for embolization. They arise most commonly from the left atrium, but no chambers of the heart are immune. They may be sporadic in the majority but also familial as a part of the Carney complex. Two morphological forms exist: polypoid and papillary. Polypoid myxomas often present with obstructive features, while the papillary forms are more prone to embolization. Histogenesis is still controversial; the current view centres around origin from the primitive pluripotent mesenchymal cells. They may be of giant proportion, be calcified or get infected. Clinical presentation typically involves the triad of intracardiac obstruction, embolic events and constitutional symptoms. Precordial examination findings may simulate those of mitral or tricuspid stenosis. The presence of tumour plop and change of the physical findings with changing position may help differentiation between the two. Echocardiography is the investigation of choice. Echogenic polypoid or papillary mobile mass within the atrial cavity remaining attached to the interatrial septum through a stalk are the tell-tale echocardiographic features. Cardiac magnetic resonance and computed tomographic scanning may have incremental diagnostic value. Histopathological examination reveals abundant loose myxoid stroma with scattered round, polygonal or stellate cells with dense irregular nuclei. Genetic testing may detect mutations in the gene in the familial form of cardiac myxoma, the Carney complex. Surgical excision is the mainstay of treatment with low operative mortality, excellent postoperative survival and low recurrence rate. The current trend favours minimal-access surgery with or without robotic assistance. Physicians should have appropriate preparedness to make a timely diagnosis and enthusiastic treatment to avoid potentially fatal complications.
PubMed: 35582466
DOI: 10.4330/wjc.v14.i4.206 -
Journal of Personalized Medicine Dec 2022: The association between cerebral aneurysms and left atrial myxoma is known but rare. We described its pathogenesis, clinical presentation, diagnostic findings and... (Review)
Review
: The association between cerebral aneurysms and left atrial myxoma is known but rare. We described its pathogenesis, clinical presentation, diagnostic findings and treatment using a systemic review of the literature. : MEDLINE via PubMed was searched for articles published until August 2022 using the keywords "atrial myxoma", "cardiac myxoma" and "cerebral aneurysm". : In this review, 55 patients with multiple myxomas aneurysms were analyzed, and 65% were women. The average age when aneurysms were diagnosed was 42.5 ± 15.81; most patients were less than 60 years old (86%). Aneurysms could be found before the diagnosis, at the same time as cardiac myxoma, or even 25 years after resection of the atrial mass. In our review, the mean time to diagnoses was 4.5 years. Our review estimates that the most common symptoms were vascular incidents (25%) and seizures (14.3%). In 15 cases, variable headaches were reported. Regarding management strategies, 57% cases were managed conservatively as the primary choice. : Although cerebral aneurysms caused by atrial myxoma are rare, the long-term consequences can be serious and patients should be monitored.
PubMed: 36675669
DOI: 10.3390/jpm13010008 -
Journal of Cardiovascular Imaging Oct 2020Primary cardiac neoplasms are rare entities of which approximately 75% are benign and the remaining 25% malignant. Myxomas are the most common benign primary cardiac... (Review)
Review
Primary cardiac neoplasms are rare entities of which approximately 75% are benign and the remaining 25% malignant. Myxomas are the most common benign primary cardiac tumor (30%) and most commonly arise in the left atrium from the interatrial septum at the fossa ovalis. However, they also can originate in any cardiac chamber. Clinical presentation and patient symptomatology are determined by size, location, and mobility of the myxoma. This review will discuss the clinical presentation, natural history, pathology, and multimodality imaging features of cardiac myxomas.
PubMed: 32462832
DOI: 10.4250/jcvi.2020.0027 -
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 -
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