Abstract
Background
Cardiac paragangliomas are rare neuroendocrine tumors that can present with catecholaminergic symptoms or be discovered incidentally. Multimodality imaging and genetic testing are central to diagnosis and management.
Case Summary
A 76-year-old woman with paroxysmal atrial fibrillation and recurrent gastrointestinal bleeding underwent preprocedural imaging with cardiac computed tomography angiography for left atrial appendage occlusion, which revealed a large mass near the ascending aorta encasing the proximal right coronary artery. Surgical resection of the mass was performed. Histopathology confirmed the presence of paraganglioma. Genetic analysis identified a hereditary gene mutation.
Discussion
Cardiac paragangliomas are rare tumors that require a high index of suspicion. This case demonstrates the diagnostic value of advanced imaging in cardiac tumors and illustrates the role of genetic testing in identifying heritable paraganglioma syndromes.
Take-Home Messages
Multimodality imaging is important in the diagnosis of cardiac masses. Surgical resection is the primary treatment for cardiac paragangliomas.
Key words: cardiac paraganglioma, cardiac tumor, multimodality imaging
Visual Summary
History of Presentation
A 76-year-old woman was referred for a preprocedural work-up for left atrial appendage occlusion because of paroxysmal atrial fibrillation. She was asymptomatic at the time of the evaluation. The physical examination was unremarkable, with hemodynamic parameters remaining stable.
Past Medical History
The patient had a history of paroxysmal atrial fibrillation, hypertension, chronic kidney disease (stage III), and dyslipidemia. She reported no known family history of neuroendocrine tumors.
Differential Diagnosis
The differential diagnosis included ascending aortic pseudoaneurysm, cardiac hemangioma, intrapericardial paraganglioma, coronary artery aneurysm, cardiac lymphoma, and metastasis.
Investigations
Cardiac computed tomography angiography revealed a well-defined, heterogeneously enhancing mass (4.2 × 3.3 cm) near the ascending aorta (Figure 1A). Cardiac magnetic resonance imaging showed a hyperintense lesion on T2-weighted imaging, with significant gadolinium enhancement suggesting a highly vascular tumor (Figures 1B and 1C). Plasma metanephrines and normetanephrines were within normal limits, suggesting a nonfunctional tumor. Postoperative positron emission tomography with 68 Ga dotatate (PET-dotatate) demonstrated mild radiotracer uptake, indicating residual disease (Figure 1D), and demonstrated an area of avid uptake in the small bowel suspicious for primary versus metastatic disease (Figure 1E). Further evaluation with video capsule endoscopy, double-balloon enteroscopy, and magnetic resonance enterography to examine the entirety of the small bowel did not reveal any suspicious lesions. Histopathology revealed a Zellballen architecture with positive chromogranin and synaptophysin staining (Figure 1F), which confirmed the diagnosis of paraganglioma. Genetic testing detected a pathogenic mutation in the SDHC (succinate dehydrogenase subunit C) gene, consistent with hereditary paraganglioma syndrome.
Figure 1.
Preoperative and Postoperative Imaging
(A) Axial computed tomography scan with large (approximately 4.2 × 3.3 cm), heterogeneously enhancing mass (arrow) visualized anterior to the ascending aorta. (B) Axial magnetic resonance imaging with heterogenous late gadolinium uptake (arrow). (C) Intraoperative image showing the gross appearance of the mass (arrow). (D) Postoperative PET-dotatate imaging showing focal uptake (arrow), compatible with residual disease. (E) PET imaging with focal avid uptake in the small bowel (arrow), suspicious for metastatic versus synchronous disease. (F) Nests of cells stained for neuroendocrine markers chromogranin and synaptophysin. PET = positron emission tomography; PET-dotatate = positron emission tomography with 68 Ga dotatate.
Management
Given the tumor's vascularity and location, a multidisciplinary team comprising specialists in cardiology, cardiothoracic surgery, radiology, and genetics coordinated the patient's care. Given the encasement of the right coronary artery by the tumor and the need for left atrial appendage exclusion, the decision was made to pursue surgery. The patient underwent resection of the tumor, right coronary artery bypass grafting, and exclusion of the left atrial appendage using an AtriClip device (AtriCure). The intraoperative course was uneventful, with adequate hemostasis and gross total resection. The patient's postoperative recovery was uncomplicated. A surveillance PET-dotatate scan revealed minimal uptake at the surgical bed, indicating residual disease. Follow-up imaging at regular intervals was planned.
Outcome and Follow-Up
The patient was discharged in stable condition. She is currently undergoing surveillance with periodic functional imaging (PET-dotatate) to monitor for recurrence. Genetic counseling and testing completed in the outpatient setting for family risk assessment detected the SDHC gene variant in the patient's sister.
Discussion
Cardiac paragangliomas are rare, making up <1% of all cardiac tumors; fewer than 200 cases have been reported in the literature. These tumors originate from the autonomic ganglia and may secrete catecholamines, causing systemic symptoms such as hypertension, palpitations, and diaphoresis. However, some of these tumors pose diagnostic and therapeutic challenges because of nonspecific symptoms, incidental discovery, and the complexity of the tumor location.1,2
Multimodality imaging (computed tomography and magnetic resonance imaging) is pivotal in identifying the vascular nature and precise anatomical location of the tumor. Magnetic resonance imaging provides superior tissue characterization, while the commonly used radiotracer scan (PET-dotatate) enables detection of residual disease after resection given the affinity of the radiotracer to the somatostatin receptors that play an integral role in the majority of neuroendocrine tumors.3
Surgical resection is the gold standard of treatment, especially in symptomatic cardiac paragangliomas, but it is often pursued if the tumor is locally affecting vital cardiac structures.4 Given the tumor's vascularity, bleeding is a known risk, and involvement of the coronary arteries or other critical structures often necessitates additional procedures (eg, coronary artery bypass grafting).5,6
Genetic testing is essential for all patients with paraganglioma, regardless of functionality, because of the high prevalence of germline mutations including RET, NF1, VHL, and SDH, particularly in SDH gene subunits (SDHB, SDHC, SDHD). SDHC mutations are associated with familial paraganglioma and increased risk of multifocal disease, requiring lifelong surveillance.7
Visual Summary.
Timeline of Events
CT = computed tomography; GI = gastrointestinal; MRI = magnetic resonance imaging; PET-dotatate = positron emission tomography with 68 Ga dotatate.
Conclusions
This case highlights the importance of early recognition and evaluation of cardiac masses with advanced cardiac imaging. Genetic testing plays a critical role in guiding management and surveillance in patients with cardiac paraganglioma. A collaborative, multidisciplinary approach improves outcomes and ensures appropriate follow-up.6, 7, 8
Funding Support and Author Disclosures
The authors have reported that they have no relationships relevant to the contents of this paper to disclose.
Take-Home Messages
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Cardiac paragangliomas can be asymptomatic, requiring a high index of suspicion; multimodality imaging is important for diagnosis.
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Genetic testing is essential to identify familial syndromes, surgical resection is the primary treatment approach, and postoperative surveillance is crucial for detecting residual disease.
Equipment List.
Left Atrial Appendage Occlusion and Tumor Resection
Imaging
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Surgical tools
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PET/CT = positron emission tomography/computed tomography.
Acknowledgements
The authors thank Blair Tilkens, DO, for assisting with the manuscript.
Footnotes
The authors attest they are in compliance with human studies committees and animal welfare regulations of the authors’ institutions and Food and Drug Administration guidelines, including patient consent where appropriate. For more information, visit the Author Center.
References
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