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Frontiers in Endocrinology 2024Paragangliomas (PGL) are rare neuroendocrine tumors derived from the autonomic nervous system paraganglia. Urinary bladder paragangliomas (UBPGL) originate from the...
BACKGROUND
Paragangliomas (PGL) are rare neuroendocrine tumors derived from the autonomic nervous system paraganglia. Urinary bladder paragangliomas (UBPGL) originate from the sympathetic neurons of the urinary bladder wall and represent 0.7% of all paragangliomas and <0.05% of all bladder tumors. PGL and UBPGL can be associated with gene variants, with the most common germline alterations found in and .
CASE REPORT
We report a case of a 42-year-old woman who presented with menorrhagia/hematuria, uterine leiomyomas, as well as cardiac and bladder masses. The cardiac mass was favored to be a myxoma based on clinical findings, while the bladder mass was diagnosed as UBPGL. A novel mutation (c.642G>A, p Q214Q), detected in the UBPGL, was proven to be somatic. Although this variant was seemingly synonymous, it was predicted to have a loss of function due to the splice site effect, which was further supported by the immunohistochemical loss of .
CONCLUSION
This case highlights the challenges of diagnosing an extremely rare entity, bladder paraganglioma, with an emphasis on the multidisciplinary approach to navigate various clinical and imaging findings that may initially be misleading. In addition, a novel loss of function variant that could have been overlooked as a synonymous variant is herein reported, while also illustrating the importance of both germline and somatic mutation testing.
Topics: Humans; Female; Adult; Urinary Bladder Neoplasms; Paraganglioma; Succinate Dehydrogenase; Mutation
PubMed: 38911036
DOI: 10.3389/fendo.2024.1386285 -
Medical Ultrasonography Jun 2024
Topics: Humans; Heart Neoplasms; Myxoma; Neoplasm Recurrence, Local; Female; Male; Middle Aged; Echocardiography
PubMed: 38909370
DOI: 10.11152/mu-4401 -
JTCVS Techniques Jun 2024
PubMed: 38899078
DOI: 10.1016/j.xjtc.2024.03.002 -
BMC Cardiovascular Disorders Jun 2024Carney syndrome is an uncommon autosomal disorder closely linked to mutations in the PRKAR1A gene. Skin lesions are the most pronounced feature of Carney syndrome,...
BACKGROUND
Carney syndrome is an uncommon autosomal disorder closely linked to mutations in the PRKAR1A gene. Skin lesions are the most pronounced feature of Carney syndrome, affecting over 80% of individuals with this condition. This syndrome is characterized by a triad of myxomas, skin pigmentation, and endocrine hyperfunction, featuring multiple endocrine neoplasms with skin and cardiac involvement. Dilated cardiomyopathy, a primary cardiomyopathy, is defined as the dilation and impaired systolic function of the left or both ventricles. Its clinical presentation varies from being asymptomatic to heart failure or sudden cardiac death, making it a leading global cause of heart failure. Currently, Dilated cardiomyopathy has an estimated prevalence of 1/2500-1/250 individuals, predominantly affecting those aged 30-40 years, with a male-to-female ratio of 3:1. This case report describes a heart failure patient with cardiac myxoma caused by Carney syndrome combined with dilated cardiomyopathy. The patient was successfully treated for heart failure by heart transplantation.
CASE PRESENTATION
Herein, we report a case of heart failure due to Carney syndrome that resulted in cardiac myxoma combined with dilated cardiomyopathy. A 35-year-old male was admitted to the hospital three years ago because of sudden chest tightness and shortness of breath. Echocardiography indicated myxoma, and a combination of genetic screening and physical examination confirmed Carney syndrome with cardiac myxoma. Following symptomatic management, he was discharged. Surgical interventions were not considered at the time. However, the patient's chest tightness and shortness of breath symptoms worsened, and he returned to the hospital. A New York Heart Association grade IV heart function was confirmed, and echocardiography indicated the presence of dilated cardiomyopathy accompanied by cardiac myxoma. Ultimately, the patient's heart failure was successfully treated with heart transplantation.
CONCLUSIONS
Cardiac myxoma caused by Carney syndrome combined with heart failure caused by dilated cardiomyopathy can be resolved by heart transplantation.
Topics: Humans; Cardiomyopathy, Dilated; Male; Carney Complex; Adult; Heart Transplantation; Myxoma; Heart Failure; Heart Neoplasms; Treatment Outcome; Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
PubMed: 38886700
DOI: 10.1186/s12872-024-03946-4 -
Cureus May 2024Cardiac myxomas are the most common benign primary heart tumors, with the majority occurring in the left atrium. Clinical manifestations are a result...
Cardiac myxomas are the most common benign primary heart tumors, with the majority occurring in the left atrium. Clinical manifestations are a result of constitutional, obstructive, and/or embolic events. Complications include myocardial infarction and stroke, as well as renal and limb ischemia. Our unusual case is a middle-aged female who presented with a one-week history of progressively worsening abdominal pain and was found to have a large splenic infarction on a CT scan. There was no personal or family history of autoimmune diseases or hypercoagulable states. The evaluation revealed a large left atrial myxoma confirmed on biopsy after surgical resection. Our patient's clinical presentation was relatively benign compared to the size of her mass. Although her myxoma was very large, morphologically solid, and attached to the interatrial septum, she did not have any evidence of congestive heart failure. The tumor's irregular surface and mobility likely led to splenic embolization. Hence, the differential diagnosis of splenic infarction should include left atrial myxoma.
PubMed: 38883067
DOI: 10.7759/cureus.60505 -
European Journal of Case Reports in... 2024Atypical myxoma has been reported in various locations in the heart, however, myxoma involving the pulmonary valve is rare. Here we present a case of pulmonic valve...
BACKGROUND
Atypical myxoma has been reported in various locations in the heart, however, myxoma involving the pulmonary valve is rare. Here we present a case of pulmonic valve myxoma which was resected via a percutaneous approach.
CASE REPORT
A 66-year-old female with known metastatic adenocarcinoma of the lung, and chronic obstructive pulmonary disease presented with acute onset shortness of breath for two days. The patient experienced respiratory arrest en-route to the hospital and required intubation. Computed tomography angiography (CTA) of the chest revealed a new 1.4 × 1.6 cm intracardiac mass along the pulmonary valve. Further evaluation with cardiac magnetic resonance imaging revealed it to be a large vascular tumor on the ventricular side of the pulmonary valve, attached with a narrow stalk. Due to high surgical risk, the patient underwent transesophageal echocardiographic guided percutaneous removal of the mass. Pathology confirmed the mass to be a myxoma.
CONCLUSION
Atypical myxoma should be considered in the differential diagnosis of valvular masses. Percutaneous resection of valvular masses may be feasible in high-risk surgical patients.
LEARNING POINTS
Pulmonary valve myxoma is a rare condition and the literature on the characteristics and treatment options for pulmonary valve myxoma is limited.Our patient was treated with a minimally invasive treatment approach: removal of a tumor with intra operative transesophageal echocardiographic guidance using AngioVac and Flow Triever catheters.Percutaneous resection of valvular masses may be feasible in high surgical risk patients.
PubMed: 38846647
DOI: 10.12890/2024_004519 -
Cureus May 2024Odontogenic fibromyxoma typically presents as painless swelling in the jaw, and clinically, it grows slowly, becoming benign and asymptomatic. It causes the cortical...
Odontogenic fibromyxoma typically presents as painless swelling in the jaw, and clinically, it grows slowly, becoming benign and asymptomatic. It causes the cortical plates to expand gradually, which leads to mobility and drifting of the teeth. Root resorption is also common. The tumor is locally aggressive in nature. It is also known to have a high recurrence rate. We present the case of a 30-year-old female patient who was diagnosed and treated for odontogenic fibromyxoma of the maxilla conservatively with enucleation. The radiograph showed a multilocular lesion, which can be confused with ameloblastoma, aneurysmal bone cyst, or odontogenic keratocyst. Hence, with proper clinical, radiographic, and histopathological examination, a correct diagnosis can be made and adequate treatment can be planned.
PubMed: 38846229
DOI: 10.7759/cureus.59763 -
Chonnam Medical Journal May 2024
PubMed: 38841609
DOI: 10.4068/cmj.2024.60.2.138 -
SA Journal of Radiology 2024Fibrous dysplasia (FD) is a rare, non-inherited, congenital bone disorder which may be monostotic or polyostotic. The polyostotic form may rarely present in syndromic...
UNLABELLED
Fibrous dysplasia (FD) is a rare, non-inherited, congenital bone disorder which may be monostotic or polyostotic. The polyostotic form may rarely present in syndromic forms when associated with extra-skeletal manifestations. Mazabraud syndrome is a rare syndrome consisting of polyostotic FD presenting with intramuscular myxomas. McCune-Albright syndrome is recognised by polyostotic FD, precocious puberty and 'café au lait' spots. This report describes an adult patient with Mazabraud syndrome and a child with McCune-Albright syndrome.
CONTRIBUTION
Radiographic findings are typical with bowing deformities, sclerotic, lucent or mixed lesions and bony expansion, often with endosteal scalloping. MRI is often non-contributory and may actually mimic a more aggressive process. Early detection and correct diagnosis allow for early preventative treatment and rehabilitation to prevent devastating neurological sequelae and disability.
PubMed: 38840825
DOI: 10.4102/sajr.v28i1.2877 -
Journal of Dental Anesthesia and Pain... Jun 2024Numerous neoplastic lesions can arise in the orofacial region in the pediatric populations. Odontogenic tumors typically affect the mandible more than the maxilla....
Numerous neoplastic lesions can arise in the orofacial region in the pediatric populations. Odontogenic tumors typically affect the mandible more than the maxilla. Airway management can be challenging in pediatric oral tumors because of the distorted anatomy and physiological variations. Conventional awake fiberoptic intubation is not always possible owing to limited cooperation from the pediatric populations. Herein, we report the case of a 1-year-old child with odontogenic myxoma of the mandible and an anticipated difficult airway. Given the expected difficulties in the airway, video laryngoscope-assisted orotracheal intubation under general anesthesia with maintenance of spontaneous breathing was scheduled. Proper planning and thorough examinations are vital for successful airway management in pediatric patients.
PubMed: 38840650
DOI: 10.17245/jdapm.2024.24.3.213