Multimodality Cardiac Imaging Enhances Diagnosis and Management of Recurrent Atrial Myxomas in Carney Complex.
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ABSTRACT:
SUBMITTER: Patibandla S
PROVIDER: S-EPMC8370850 | biostudies-literature | 2021 Aug
REPOSITORIES: biostudies-literature
Publications
Multimodality Cardiac Imaging Enhances Diagnosis and Management of Recurrent Atrial Myxomas in Carney Complex.
Patibandla Saikrishna S Brito Daniel D Sloyer Daniel D Cook Chris C Badhwar Vinay V Mills James D JD
CASE (Philadelphia, Pa.) 20210423 4
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Project description:The case of a 67-year-old man who presented for elective gastroenterology procedures and was in atrial fibrillation is discussed. Transthoracic echocardiography revealed a large atrial mass. Preoperative coronary angiography revealed a heavily vascularized mass. Use of cardiac magnetic resonance identified the cardiac mass as likely an atrial myxoma. (Level of Difficulty: Beginner.).
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Project description:Myxomas are located in the left atrium in 75-80% of cases and almost always present with signs and symptoms of a thromboembolic event. Biatrial myxomas are rare, and their incidence is generally less than 2.5% of all myxomas. We herein present a case of biatrial myxomas as an incidental finding by echocardiography where the patient underwent surgery. Echocardiography continues to be the initial imaging modality for intracardiac masses. Cardiac magnetic resonance provides superior tissue characterization, particularly important in differentiating a myxoma from a thrombus. Appropriate use of these non-invasive imaging modalities may lead to a correct diagnosis and good outcome. <Learning objective: In this report we present a rare case of cardiac biatrial myxomas. Multimodality imaging, especially delayed enhancement cardiac magnetic resonance imaging, provided specific findings for the diagnosis.>.
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Project description:A 35-year-old man presented to the emergency department with reports of chest pain, progressive shortness of breath, and pedal edema. He had a history of multiple hospital admissions without improvement. Multimodality imaging revealed a suspected giant right atrial myxoma. The patient underwent successful excision of the mass, and his symptoms improved postoperatively. Histopathologic examination of the mass confirmed the diagnosis of atrial myxoma.
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Project description:AimsCardiac myxomas usually develop in the atria and consist of an acid-mucopolysaccharide-rich myxoid matrix with polygonal stromal cells scattered throughout. These human benign tumours are a valuable research model because of the rarity of cardiac tumours, their clinical presentation and uncertain origin. Here, we assessed whether multipotent cardiac stem/progenitor cells (CSCs) give rise to atrial myxoma tissue.Methods and resultsTwenty-three myxomas were collected and analysed for the presence of multipotent CSCs. We detected myxoma cells positive for c-kit (c-kitpos) but very rare Isl-1 positive cells. Most of the c-kitpos cells were blood lineage-committed CD45pos/CD31pos cells. However, c-kitpos/CD45neg/CD31neg cardiac myxoma cells expressed stemness and cardiac progenitor cell transcription factors. Approximately ≤10% of the c-kitpos/CD45neg/CD31neg myxoma cells also expressed calretinin, a characteristic of myxoma stromal cells. In vitro, the c-kitpos/CD45neg/CD31neg myxoma cells secrete chondroitin-6-sulfate and hyaluronic acid, which are the main components of gelatinous myxoma matrix in vivo. In vitro, c-kitpos/CD45neg/CD31neg myxoma cells have stem cell properties being clonogenic, self-renewing, and sphere forming while exhibiting an abortive cardiac differentiation potential. Myxoma-derived CSCs possess a mRNA and microRNA transcriptome overall similar to normal myocardium-derived c-kitpos/CD45neg/CD31negCSCs , yet showing a relatively small and relevant fraction of dysregulated mRNA/miRNAs (miR-126-3p and miR-335-5p, in particular). Importantly, myxoma-derived CSCs but not normal myocardium-derived CSCs, seed human myxoma tumours in xenograft's in immunodeficient NOD/SCID mice.ConclusionMyxoma-derived c-kitpos/CD45neg/CD31neg CSCs fulfill the criteria expected of atrial myxoma-initiating stem cells. The transcriptome of these cells indicates that they belong to or are derived from the same lineage as the atrial multipotent c-kitpos/CD45neg/CD31neg CSCs. Taken together the data presented here suggest that human myxomas could be the first-described CSC-related human heart disease.
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Project description:A 39-year-old female patient presents to the emergency department with palpitations and dyspnoea, with the admission electrocardiogram revealing atrial flutter. Step-by-step multimodality imaging techniques, including transthoracic echocardiography, computed tomography, cardiac magnetic resonance imaging, and intracardiac echocardiography-guided tissue biopsy, led to the final diagnosis of a right atrial angiosarcoma.
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Project description:This study aimed to evaluate liver involvement in patients with Carney complex (CNC) based on a large cohort and to analyze any germline PRKAR1A genotype-phenotype association of liver disease. The study included 83 patients with CNC, followed between 1995 and 2018 at a tertiary research center. We reviewed liver images, recorded types and number of lesions and analyzed per genotype: all patients were sequenced for the PRKAR1A gene. A total of 29/83 patients (24.0%) had liver radiological findings. Patients with liver lesion had a significantly higher rate of pathogenic variants detected in the PRKAR1A gene (72.4 vs 38.9%, P = 0.005, respectively). Patients with a pathogenic variant detected on germline PRKAR1A analysis had a higher risk for having a liver lesion compared with patients with wild-type (WT) PRKAR1A alleles (21/42 (50.0%) vs 8/41 (19.5%), respectively, P = 0.004). Among patients with liver lesions, those with a nonsense PRKAR1A pathogenic-variant had more liver lesions (7/7) than among those with other pathogenic-variant types (8/22, P = 0.001). In multivariable analysis, detection of liver lesion(s) was associated with an odds ratio of 5.2 for cardiac myxomas (95% CI 1.55-17.49, P = 0.008). In conclusion, patients with CNC, particularly with a PRKAR1A pathogenic variant, have a higher rate of liver lesions. Additionally, liver lesions are associated with a high risk for cardiac myxomas in this population.
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Project description:Cardiac myxomas are benign mesenchymal tumors that can present as components of the human autosomal dominant disorder Carney complex. Syndromic cardiac myxomas are associated with spotty pigmentation of the skin and endocrinopathy. Our linkage analysis mapped a Carney complex gene defect to chromosome 17q24. We now demonstrate that the PRKAR1alpha gene encoding the R1alpha regulatory subunit of cAMP-dependent protein kinase A (PKA) maps to this chromosome 17q24 locus. Furthermore, we show that PRKAR1alpha frameshift mutations in three unrelated families result in haploinsufficiency of R1alpha and cause Carney complex. We did not detect any truncated R1alpha protein encoded by mutant PRKAR1alpha. Although cardiac tumorigenesis may require a second somatic mutation, DNA and protein analyses of an atrial myxoma resected from a Carney complex patient with a PRKAR1alpha deletion revealed that the myxoma cells retain both the wild-type and the mutant PRKAR1alpha alleles and that wild-type R1alpha protein is stably expressed. However, in this atrial myxoma, we did observe a reversal of the ratio of R1alpha to R2beta regulatory subunit protein, which may contribute to tumorigenesis. Further investigation will elucidate the cell-specific effects of PRKAR1alpha haploinsufficiency on PKA activity and the role of PKA in cardiac growth and differentiation.
| S-EPMC381290 | biostudies-literature
Project description:Myxomas, the most common primary tumor of the heart, usually develop in the atria and consist of a myxoid matrix composed of an acid-mucopolysaccharide-rich stroma with polygonal stromal cells scattered throughout the matrix. These benign tumors, despite their rarity, are a research focus because of their clinical presentation and uncertain histogenesis. The objective of this study was to assess whether adult cardiac stem/progenitor cells (CSCs) give rise to myxoma stromal cells and secrete the typical myxoid matrix. 23 collected tumors showed the typical histological features of cardiac atrial myxoma with polygonal cells positive for the myxoma tumor-cell marker, calretinin, dispersed in an abundant myxoid matrix. We detected myxoma cells positive for c-kit (c-kitpos) but very rare Isl-1 positive cells. Most of these c-kitpos cells were lineage-committed CD45pos/CD31pos cells. However, c-kitpos /CD45neg/CD31neg cardiac myxoma cells expressed stemness and cardiac progenitor cell transcription factors. Some (<10%) of these c-kitpos/ CD45neg/CD31neg/ myxoma cells expressed also calretinin, representing myxoma stromal precursor cells. c-kitpos/CD45neg/CD31neg cardiac myxoma cells secrete in vitro chondroitin-6-sulfate and hyaluronic acid, composing the gelatinous matrix of cardiac myxoma in vivo. In vitro, c-kitpos/CD45neg/CD31neg myxoma cells have stem cell properties being clonogenic, self-renewing and sphere forming. On the other hand, they exhibited an abortive cardiac differentiation potential with significant changes in their mRNA and microRNA transcriptome compared to normal c-kitpos/CD45neg /CD31neg CSCs. Importantly, myxoma-derived CSCs seed human atrial myxoma in xenograft’s experiments in NOD/SCID mice. Thus, un-committed c-kitpos/CD45neg /CD31neg cells fulfill the criteria of myxoma stem cells in atrial myxoma. Myxomas appear to be the first CSC-related human cardiac disease.
2020-05-02 | E-MTAB-8642 | biostudies-arrayexpress
Project description:Myxomas, the most common primary tumor of the heart, usually develop in the atria and consist of a myxoid matrix composed of an acid-mucopolysaccharide-rich stroma with polygonal stromal cells scattered throughout the matrix. These benign tumors, despite their rarity, are a research focus because of their clinical presentation and uncertain histogenesis. The objective of this study was to assess whether adult cardiac stem/progenitor cells (CSCs) give rise to myxoma stromal cells and secrete the typical myxoid matrix. 23 collected tumors showed the typical histological features of cardiac atrial myxoma with polygonal cells positive for the myxoma tumor-cell marker, calretinin, dispersed in an abundant myxoid matrix. We detected myxoma cells positive for c-kit (c-kitpos) but very rare Isl-1 positive cells. Most of these c-kitpos cells were lineage-committed CD45pos/CD31pos cells. However, c-kitpos /CD45neg/CD31neg cardiac myxoma cells expressed stemness and cardiac progenitor cell transcription factors. Some (<10%) of these c-kitpos/ CD45neg/CD31neg/ myxoma cells expressed also calretinin, representing myxoma stromal precursor cells. c-kitpos/CD45neg/CD31neg cardiac myxoma cells secrete in vitro chondroitin-6-sulfate and hyaluronic acid, composing the gelatinous matrix of cardiac myxoma in vivo. In vitro, c-kitpos/CD45neg/CD31neg myxoma cells have stem cell properties being clonogenic, self-renewing and sphere forming. On the other hand, they exhibited an abortive cardiac differentiation potential with significant changes in their mRNA and microRNA transcriptome compared to normal c-kitpos/CD45neg /CD31neg CSCs. Importantly, myxoma-derived CSCs seed human atrial myxoma in xenograft’s experiments in NOD/SCID mice. Thus, un-committed c-kitpos/CD45neg /CD31neg cells fulfill the criteria of myxoma stem cells in atrial myxoma. Myxomas appear to be the first CSC-related human cardiac disease.
2020-04-01 | E-MTAB-8701 | biostudies-arrayexpress