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BMC Endocrine Disorders Feb 2023Carney complex (CNC) is a rare multiple endocrine neoplasia syndrome characterized by mucocutaneous lentigines/ blue nevi, cardiac myxoma and endocrine overactivity.... (Review)
Review
BACKGROUND
Carney complex (CNC) is a rare multiple endocrine neoplasia syndrome characterized by mucocutaneous lentigines/ blue nevi, cardiac myxoma and endocrine overactivity. Here, we report a CNC case with PRKAR1A gene mutation characterized by left atrial adenomyxoma to explore the diagnosis and treatment of CNC.
CASE PRESENTATION
A 42-year-old woman with a history of cardiac tumour surgery presented with typical features of Cushing syndrome, including central obesity, buffalo hump, mild facial plethora, purple striae on the lower abdomen, and spotty skin pigmentation. Left atrial adenomyxoma and thyroid papillary carcinoma were identified by postoperative histologic assays. Genetic screening revealed a pathogenic germline heterozygous mutation of c.682C > T (p.R228X) in exon 7 of the PRKAR1A gene. The clinical features and normal ACTH levels suggest this patient suffered the ACTH-independent primary pigmented nodular adrenocortical disease (PPNAD) with cyclic hypercortisolism or ACTH-dependent Cushing syndrome.
CONCLUSION
CNC is uncommon, however, if a patient develops clinical features involving multiple endocrine and non-endocrine tumors, especially Cushing syndrome and cardiac myxoma, CNC should be considered. Genetic analysis is recommended in patients with suspected CNC.
Topics: Humans; Carney Complex; Cushing Syndrome; Atrial Fibrillation; Myxoma; Adrenocorticotropic Hormone; Mutation
PubMed: 36740703
DOI: 10.1186/s12902-023-01285-7 -
BMC Anesthesiology Jul 2020Embolic stroke is a common complication of atrial myxoma, whereas multiple cerebral aneurysms associated with atrial myxoma is rare. The pathogenesis of the cerebral... (Review)
Review
BACKGROUND
Embolic stroke is a common complication of atrial myxoma, whereas multiple cerebral aneurysms associated with atrial myxoma is rare. The pathogenesis of the cerebral vascular disease related to an atrial myxoma is still not well known, and there are no guidelines to guide treatment and anesthesia management in such patients.
CASE PRESENTATION
In this report, we present a 38-year-old woman with occasional dizziness and headache diagnosed as multiple cerebral fusiform aneurysms, in whom transthoracic echocardiography revealed a mass attached to the interatrial septum in the left atrium. Myxoma resection was performed in fast track cardiac surgery pathway without neurological complications, and no intervention was carried out on the cerebral aneurysms. She was discharged home 6 days after the procedure for followed-up. Furthermore, we reviewed and analyzed the literature in the PubMed and Google Scholar databases in order to conclude the optimal treatment in such cases.
CONCLUSIONS
Atrial myxoma-related cerebral aneurysms are always multiple and in a fusiform shape in most occasions. Early resection of myxoma and conservative therapy of aneurysm is an optimal treatment. TEE and PbtO monitoring play an essential role in anesthesia management. Fast track cardiac anesthesia is safe and effective to early evaluate neurological function. Long term follow-up for "myxomatous aneurysms" is recommended. And outcome of most patients is excellent.
Topics: Adult; Anesthesia, Cardiac Procedures; Female; Heart Neoplasms; Humans; Intracranial Aneurysm; Myxoma
PubMed: 32622360
DOI: 10.1186/s12871-020-01055-1 -
Romanian Journal of Morphology and... 2021Primary cardiac tumors are an extremely rare pathology, representing only 5-10% of cardiac neoplasms, but among them, the most common are cardiac myxomas, that appear to...
Primary cardiac tumors are an extremely rare pathology, representing only 5-10% of cardiac neoplasms, but among them, the most common are cardiac myxomas, that appear to originate from multipotent mesenchymal cells of the subendocardial and endocardial stroma. The incidence of cardiac myxomas is higher in females and they are usually diagnosed between the fourth and sixth decade of life. Most often, they are located in the left atrium, having the site of attachment at the level of the interatrial septum, especially at the level of the fossa ovalis and the adjacent limbus. Due to the increased risk of systemic embolization and intracardiac obstruction, cardiac myxomas have a definite indication for emergency surgical treatment. Cardiac myxomas are a very rare cause of transient ischemic attacks and stroke. We present the case of a 38-year-old patient who experienced four recurrent transient ischemic attacks and strokes. At the fourth cerebrovascular event, echocardiography was performed and it revealed a giant tumor located in the left atrium that was surgically removed. Pathological examination confirmed the diagnosis of cardiac myxoma. The postoperative evolution was favorable, both from a neurological and cardiac point of view. Although cardiac myxomas represent a rare cause of transient ischemic attacks and stroke, they must be considered as part of the assessment protocol for cerebrovascular events.
Topics: Adult; Echocardiography; Female; Heart Atria; Heart Neoplasms; Humans; Myxoma; Stroke
PubMed: 35024724
DOI: 10.47162/RJME.62.2.02 -
Medicine May 2001We analyzed a series of 112 consecutive cases of left atrial myxoma diagnosed in a single French hospital (72 women and 40 men; age range, 5-84 yr) over 40 years, from... (Review)
Review
We analyzed a series of 112 consecutive cases of left atrial myxoma diagnosed in a single French hospital (72 women and 40 men; age range, 5-84 yr) over 40 years, from 1959 to 1998. Symptoms of mitral valve obstruction, the first arm of the classic triad of myxoma presentation, were present in 75 patients (67%), with mostly cardiac failure or malaise. Symptoms of embolism, the second frequent presentation in the classic triad, were observed in 33 cases (29%) with 1 or several locations, essentially cerebral emboli with stroke. Males are statistically at greater risk than females of developing embolic complications. The third arm of the classic triad consists of constitutional symptoms (34%) with fever, weight loss, or symptoms resembling connective tissue disease, due to cytokine (interleukin-6) secretion. Younger and male patients have more neurologic symptoms, and female patients have more systemic symptoms. Seventy-two patients (64%) had cardiac auscultation abnormalities, essentially pseudo-mitral valve disease (53.5%) and more rarely the suggestive tumor plop (15%). The most frequent electrocardiographic sign was left atrial hypertrophy (35%), whereas arrhythmias were uncommon. The greater number of myxoma patients (98) diagnosed preoperatively after 1977 reflects the introduction of echocardiography as a noninvasive diagnostic procedure. However, there was no significant reduction in the average time from onset of symptoms to operation between patients seen in the periods before and after 1977. The tumor diameter ranged from 1 to 15 cm with a weight of between 15 and 180 g (mean, 37 g). The myxoma surface was friable or villous in 35% of the cases, and smooth in the other 65% cases. Myxomas in patients presenting with embolism have a friable surface; those in patients with cardiac symptoms, pseudo-mitral auscultation signs, tumor plop, and electrocardiogram or radiologic signs of left atrium hypertrophy and dilatation are significantly the larger tumors. The long-term prognosis is excellent, and only 4 deaths occurred among our 112 cases over a median follow-up of 3 years. The recurrence rate is low (5%), but long-term follow-up and serial echocardiography are advisable especially for young patients.
Topics: Adolescent; Adult; Age Distribution; Aged; Aged, 80 and over; Child; Child, Preschool; Comorbidity; Echocardiography; Electrocardiography; Embolism; Female; France; Heart Atria; Heart Neoplasms; Humans; Male; Middle Aged; Myxoma; Nervous System Diseases; Recurrence; Sex Distribution; Survival Rate; Treatment Outcome
PubMed: 11388092
DOI: 10.1097/00005792-200105000-00002 -
Annals of Surgery May 1976During the past 12 years, 13 patients with atrial (10 left and 3 right) myxoma have been treated. The tumors of the left atrium produced signs and symptoms of mitral...
During the past 12 years, 13 patients with atrial (10 left and 3 right) myxoma have been treated. The tumors of the left atrium produced signs and symptoms of mitral valve obstruction and/or subacute bacterial endocarditis and those of the right atrium manifestations of tricuspid valve disease or of pulmonary embolus or hypertension. The diagnosis was established by angiocardiography in 8 patients, at surgery performed for suspected mitral stenosis in 3 patients, and at autopsy in 2 patients. Resection of the atrial myxoma alone in 5 patients or with atrial septum where the atrial myxoma was attached in 4 or with the whole right atrial wall where the atrial myxoma was attached in one patient was performed and all are doing well without evidence of recurrence. Studies of experimentally produced 1.5-3 cm in diameter left atrial thrombus in 30 dogs divided into 5 groups and followed cineangiocardiographically and sacrificed from 14 days to 6 months indicated that the implanted thrombus is absorbed over a 3 to 6 month period. These experimental and human left atrial thrombi were found to be histologically and histochemically different from human atrial myxomas. The electron microscopic studies performed on some of the resected atrial myxomas suggested that the atrial myxoma cells are active cells of endotheilial origin. These observations suggest that atrial myxoma is a primary tumor of the heart which can mimic other clinical entities, and the results of its surgical treatment are gratifying and long lasting.
Topics: Angiocardiography; Animals; Chondroitin Sulfates; Dogs; Female; Glycosaminoglycans; Heart Atria; Heart Neoplasms; Humans; Hyaluronic Acid; Male; Myxoma
PubMed: 1275588
DOI: 10.1097/00000658-197605000-00003 -
International Journal of Environmental... Oct 2022Myxomas are slowly growing benign neoplasms which are rare in children. Up to 80% can be located in the left atrium and generate symptoms such as embolism, cardiac... (Review)
Review
New Onset Cardiac Murmur and Exertional Dyspnea in an Apparently Healthy Child: A Rare Localization of Obstructive Myxoma in the Right Ventricle Outflow Tract without Pulmonary Embolization-A Case Report and Literature Review.
Myxomas are slowly growing benign neoplasms which are rare in children. Up to 80% can be located in the left atrium and generate symptoms such as embolism, cardiac failure, fever and weight loss. Rarely, myxomas can be detected in the right ventricle outflow tract, causing arrhythmias, pulmonary emboli and sudden death. We report the case of a 13-year-old healthy child brought to the Emergency Department (ED) of the Children's Hospital Bambino Gesù, Rome, for recent dyspnea, chest pain on exertion and new onset cardiac murmur. Patient underwent medical examination and echocardiogram with the finding of a rounded and lobulated voluminous mass in the right ventricle outflow tract (RVOT) which caused severe obstruction. The contrast computed tomography (CT) scan confirmed the presence of a heterogeneously enhancing soft-tissue mass occupying the RVOT with no evidence of pulmonary embolization. The mass was surgically excised, and the pathologic examination confirmed our suspicion of myxoma. Our experience suggests that myxoma can have mild clinical symptoms, the presentation may be non-specific, and diagnosis can be a challenge Careful examination and a diagnostic imaging workup, primarily with the transthoracic echocardiogram, are needful to make a rapid differential diagnosis and to better manage surgical treatment and follow-up.
Topics: Adolescent; Child; Dyspnea; Heart Murmurs; Heart Neoplasms; Heart Ventricles; Humans; Myxoma
PubMed: 36232202
DOI: 10.3390/ijerph191912888 -
Journal of Comparative Pathology Nov 2023This report documents the pathological features of primary cardiac myxoid tumour (MT) in 11 dogs. Macroscopically, all the tumours were located in the tricuspid valve... (Review)
Review
This report documents the pathological features of primary cardiac myxoid tumour (MT) in 11 dogs. Macroscopically, all the tumours were located in the tricuspid valve (TV), its septal leaflet being predominantly affected. Therefore, it appears that the TV is the most common site of occurrence for cardiac MT in dogs. Two gross anatomical types of canine valvular MT were evident. Seven of the 11 tumours were round or oval with a smooth or gently lobulated and glistening surface, while the other four were gelatinous, multilobulated and polypoid, with an irregular surface. Microscopically, in nine cases the tumours had an abundant myxoid matrix within which elongated spindle-shaped cells with no remarkable cytological atypia were sparsely embedded, suggesting a benign character (ie, myxoma). In the other two cases the tumours consisted of variably dense, haphazardly arranged, interlacing streams of anaplastic spindle-shaped or polygonal cells containing many mitotic figures, indicative of a malignant form of myxoma (ie, myxosarcoma). Isolated or clustered collections of myxoma cells (eg, cords, rings, syncytia) characteristic of human atrial myxoma were only rarely evident or lacking in all 11 cases, indicating that rarity or absence of such structural features may be specific to valvular MTs. Immunohistochemical findings were indicative of smooth muscle differentiation of the neoplastic cells. Tumour embolization to the intrapulmonary arteries and/or tumour implantation on the endocardium of the right heart chambers was evident only in the four cases of irregular-surfaced MT.
Topics: Humans; Dogs; Animals; Heart Neoplasms; Myxoma; Endocardium; Myxosarcoma; Dog Diseases
PubMed: 37944473
DOI: 10.1016/j.jcpa.2023.10.004 -
JPMA. the Journal of the Pakistan... Jul 2020Aggressive Angiomyxoma (AA) is a soft tissue tumour that principally affects women of the reproductive age, primarily involving the pelvis and the perineum. Despite...
Aggressive Angiomyxoma (AA) is a soft tissue tumour that principally affects women of the reproductive age, primarily involving the pelvis and the perineum. Despite being slow growing, it is classified as aggressive due to its locally infiltrative nature and high recurrence. It is rare, often asymptomatic and is misdiagnosed. However, it has characteristic features on radiographic imaging. Complete surgical resection is the ideal approach to treat AA. We report a case of an aggressive angiomyxoma in a 17 year old female, located in the ischiorectal fossa and diagnosed incidentally on a magnetic resonance imaging (MRI). The lesion was excised without complication.
Topics: Adolescent; Female; Humans; Magnetic Resonance Imaging; Myxoma; Neoplasm Recurrence, Local; Perineum; Rectum
PubMed: 32799303
DOI: 10.5455/JPMA.30242 -
Folia Morphologica 2023Cardiac myxomas are the most common primary cardiac tumours in adults. They usually present as a solitary, solid mass in the left atrium. Their most common radiographic... (Review)
Review
Cardiac myxomas are the most common primary cardiac tumours in adults. They usually present as a solitary, solid mass in the left atrium. Their most common radiographic appearance is that of a hypodense lesion on computed tomography (CT) and inhomogeneous lesion (hypo to isointense on T1 sequences and hyperintense on T2 sequences) on magnetic resonance (MR) with some contrast enhancement. However, different patterns are recognized due to secondary changes within the tumour. We present a case of a 60-year-old man with a hypervascular myxoma. The lesion was a sessile mass located in the left atrium and rigidly attached to the interatrial septum. On CT and MR, it showed vivid contrast enhancement due to intratumoural flush of arterial blood form branches of dominant left circumflex artery and a possible fistula to the left atrium. Furthermore, we review the literature for different atypical radiographic appearances of myxomas.
Topics: Humans; Male; Middle Aged; Diagnosis, Differential; Heart Atria; Heart Neoplasms; Magnetic Resonance Imaging; Myxoma
PubMed: 35411543
DOI: 10.5603/FM.a2022.0040 -
California Medicine Sep 1969These discussions are selected from the weekly staff conferences in the Department of Medicine, University of California Medical Center, San Francisco. Taken from...
These discussions are selected from the weekly staff conferences in the Department of Medicine, University of California Medical Center, San Francisco. Taken from transcriptions, they are prepared by Drs. Martin J. Cline and Hibbard E. Williams, Associate Professors of Medicine, under the direction of Dr. Lloyd H. Smith, Jr., Professor of Medicine and Chairman of the Department of Medicine.
Topics: Diagnosis, Differential; Heart Atria; Heart Neoplasms; Humans; Male; Middle Aged; Myxoma
PubMed: 5823514
DOI: No ID Found