Sporadic Form of Recurrent Atrial Myxoma: The Blob Strikes Back

Buttar, Rupinder; Hoefen, Ryan; Funderburk, Matthew; Fallone, Enzo; Baibhav, Bipul

doi:10.7759/cureus.9745

Cited by 3 publications

(5 citation statements)

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“…Saying that the triad of intracardiac obstruction, embolic events, and constitutional symptoms should let us think about a myxoma [ 2 ]. Diagnosis can be made through imaging techniques such as echocardiography, cardiac magnetic resonance, and computed tomographic scanning, however, it can be mistaken for an intracardiac thrombus [ 3 , 4 ]. Therefore, patients are often treated with anticoagulation before repeating the exams to check for changes in thrombus, like in our patients.…”

Section: Discussionmentioning

confidence: 99%

“…Therefore, patients are often treated with anticoagulation before repeating the exams to check for changes in thrombus, like in our patients. The definitive diagnosis is only done with histopathological examination [ 4 ]. Blood tests can reveal anemia, thrombocytopenia, and leukocytosis due to inflammation [ 4 ].…”

Section: Discussionmentioning

confidence: 99%

“…The definitive diagnosis is only done with histopathological examination [ 4 ]. Blood tests can reveal anemia, thrombocytopenia, and leukocytosis due to inflammation [ 4 ]. Surgical excision is the mainstay of treatment for myxomas, with low operative mortality, excellent postoperative survival, and low recurrence rate [ 1 , 2 , 4 ].…”

Section: Discussionmentioning

confidence: 99%

“…Blood tests can reveal anemia, thrombocytopenia, and leukocytosis due to inflammation [ 4 ]. Surgical excision is the mainstay of treatment for myxomas, with low operative mortality, excellent postoperative survival, and low recurrence rate [ 1 , 2 , 4 ]. All this was done in the patient, who after excision of the myxoma there was a clear improvement in fatigue and mitral regurgitation.…”

Section: Discussionmentioning

confidence: 99%

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The Role of Transesophageal Echocardiogram in the Diagnosis and Treatment of Intracardiac Tumors: A Case of Atrial Myxoma

Côrte-Real,

Côrte-Real

2024

Cureus

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Cardiac myxoma is the most common primary heart tumor in adults. Although biologically benign, they can be life-threatening by obstructing heart function. They typically develop in the left atrium and can be polypoid (causing more obstruction) or papillary (more likely to cause embolizations). Symptoms are nonspecific, and diagnosis is relatively rare. Echocardiography is essential for quick diagnosis, and surgical removal is the primary treatment with low mortality rates, excellent postoperative survival, and low recurrence rates. We report a 73-year-old woman presented to the emergency room with extreme fatigue and weight loss. Further investigations revealed a mass in the left atrium suggestive of an intracardiac tumor on a thoracic computer tomography scan. A subsequent transesophageal echocardiogram was performed, which showed a large, mobile, and friable hyperechogenic intra-auricular mass adhered to the atrial septum with moderate mitral regurgitation and moderate aortic stenosis. This case highlights the crucial role that the transesophageal echocardiogram plays in these patients by accelerating diagnosis, assisting with myxoma resolution, and confirming the complete removal of the myxoma.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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The Role of Transesophageal Echocardiogram in the Diagnosis and Treatment of Intracardiac Tumors: A Case of Atrial Myxoma

Côrte-Real,

Côrte-Real

2024

Cureus

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“… 16 Whether a mutation in the PRKAR1A gene is the cause of sporadic cardiac myxomas in patients without a relevant family history and without CNC is still controversial. 4 , 17 , 18 In this study, mutations of PRKAR1A were studied in seven cases of sporadic cardiac myxomas that occurred in the absence of a family history of cardiac myxomas and without CNC.…”

Section: Introductionmentioning

confidence: 99%

Somatic Mutation of PRKAR1A in Four Cases of Sporadic Cardiac Myxoma

Sun,

Li,

Sun

et al. 2023

Arch Iran Med

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Background: Inactivating mutations of the protein kinase A regulatory subunit 1 alpha (PRKAR1A) gene have been reported in familial cardiac myxoma. However, the role of PRKAR1A mutation in sporadic cardiac myxoma remains unknown. Methods: Targeted next-generation sequencing (NGS) was performed to identify mutations with the PRKAR1A gene in seven cases of sporadic cardiac myxomas. Sanger sequencing of DNA from cardiac myxoma specimens and matched peripheral blood samples was performed to verify the identified mutations. Results: Targeted NGS of myxoma DNA revealed 232 single nucleotide variants in 141 genes and 38 insertion-deletion mutations in 13 genes. Six PRKAR1A mutations were identified in four of the seven cardiac myxoma cases, and thus, the PRKAR1A inactivating mutation rate was 57.2% (4/7, 95% CI=0.44-0.58, P<0.05). The PRKAR1A variants identified by Sanger sequencing analysis were consistent with those from the NGS analysis for the four myxoma specimens. All of the pathogenic PRKAR1A mutations led to premature termination of PRKAR1A, except for one synonymous mutation. Moreover, none of the nonsense and missense mutations found in the myxoma specimens were found in the matched peripheral blood samples. Conclusion: Pathogenic mutations of the PRKAR1A gene were identified in tumor specimens from four cases of sporadic cardiac myxoma, and the absence of these mutations in peripheral blood samples demonstrated that they were somatic mutations.

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Left atrial myxoma and cardioembolic stroke in a young patient: a case report and literature review

et al. 2021

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Myxoma of the heart is the most common variant of a primary benign heart tumor, which is complicated in some cases by embolic complications. Myxoma of the heart is often a diagnostic puzzle in young patients due to a low-symptom or masked clinical manifestations. This case report presents a 37-year-old patient with the onset of left atrial myxoma with mitral valve obstruction manifested with syncope, associated traumatic brain injury, rightsided hemihypesthesia, and speech difficulties. The examination showed multiple lacunar ischemic brain lesions in the middle cerebral artery basin. Transthoracic echocardiography (TTE) showed a large left atrial myxoma with prolapse into the left ventricle. Myxoma was successfully removed. The case highlights the complexity of the diagnosis of cardiac myxoma, associated with the variable clinical manifestations from low-symptomatic cases to the development of cardioembolic complications. Considering recurrent embolic complications, a quick identification of the causes of ischemic stroke in patients without cardiovascular risk factors is important. TTE is a highly specific and sensitive method for the diagnosis of cardiac myxoma. Surgery is a priority treatment method, characterized by a good prognosis for sporadic single-chamber isolated myxomas.

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Sporadic Form of Recurrent Atrial Myxoma: The Blob Strikes Back

Abstract: Buttar et al. This is an open access article distributed under the terms of the Creative Commons Attribution License CC-BY 4.0., which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Cited by 3 publications

References 7 publications

The Role of Transesophageal Echocardiogram in the Diagnosis and Treatment of Intracardiac Tumors: A Case of Atrial Myxoma

The Role of Transesophageal Echocardiogram in the Diagnosis and Treatment of Intracardiac Tumors: A Case of Atrial Myxoma

Somatic Mutation of PRKAR1A in Four Cases of Sporadic Cardiac Myxoma

Left atrial myxoma and cardioembolic stroke in a young patient: a case report and literature review

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