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多发复发性心脏黏液瘤后卡尼综合征的诊断。

Diagnosis of Carney complex following multiple recurrent cardiac myxomas.

机构信息

Department of Surgery 1, Faculty of Medicine, University of Toyama, 2630 Sugitani, Toyama, 930-0194, Japan.

Second Department of Internal Medicine, University of Toyama, Toyama, Japan.

出版信息

Gen Thorac Cardiovasc Surg. 2022 Jan;70(1):87-91. doi: 10.1007/s11748-021-01719-w. Epub 2021 Oct 12.

DOI:10.1007/s11748-021-01719-w
PMID:34642893
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8732819/
Abstract

Carney complex is a rare syndrome caused by a genetic mutation leading to multiple endocrine abnormalities and a variety of tumors. Here, we report a case of Carney complex diagnosed due to recurrent multiple myxomas in the right atrium of a patient 16 years after the resection of the primary left atrial myxoma. Surgical excision was performed for the multiple recurrent right atrial tumors under cardiopulmonary bypass. The patient remained complication-free after surgery and was discharged on the 14th day. He was scheduled to continue echocardiographic follow-up and periodic systemic review by an endocrinologist. This case emphasizes the fact that if cardiac myxomas tend to be multiple and recurrent at a relatively young age, the possibility of Carney complex should be considered, even in the absence of any other related feature other than cardiac tumors.

摘要

卡尼综合征是一种罕见的综合征,由基因突变引起,导致多种内分泌异常和多种肿瘤。在这里,我们报告了一例卡尼综合征的病例,该患者在左心房黏液瘤切除 16 年后,因右心房多发性黏液瘤而被诊断。在体外循环下对多发复发性右心房肿瘤进行手术切除。患者术后无并发症,并在第 14 天出院。他被安排继续进行超声心动图随访和内分泌专家的定期系统检查。该病例强调了一个事实,即如果心脏黏液瘤倾向于多发且在相对年轻的年龄复发,则即使没有任何其他相关特征,除了心脏肿瘤之外,也应考虑卡尼综合征的可能性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c4d/8732819/721aa02b29ef/11748_2021_1719_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c4d/8732819/ac6f5185c39c/11748_2021_1719_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c4d/8732819/8b0146316648/11748_2021_1719_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c4d/8732819/5188d0729400/11748_2021_1719_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c4d/8732819/a5471c6fb344/11748_2021_1719_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c4d/8732819/721aa02b29ef/11748_2021_1719_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c4d/8732819/ac6f5185c39c/11748_2021_1719_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c4d/8732819/8b0146316648/11748_2021_1719_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c4d/8732819/5188d0729400/11748_2021_1719_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c4d/8732819/a5471c6fb344/11748_2021_1719_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c4d/8732819/721aa02b29ef/11748_2021_1719_Fig5_HTML.jpg

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本文引用的文献

1
MANAGEMENT OF ENDOCRINE DISEASE: Carney complex: clinical and genetic update 20 years after the identification of the CNC1 (PRKAR1A) gene.内分泌疾病的管理:卡尼综合征:在识别 CNC1(PRKAR1A)基因 20 年后的临床和遗传更新。
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Cryoablation for a right atrial myxoma arising from the Koch's triangle: a case report.
病例报告:具有海绵状血管瘤形态且由右冠状动脉供血的左心房黏液瘤。
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Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.卡尼综合征患者中蛋白激酶A I-α型调节亚基编码基因的突变
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The complex of myxomas, spotty pigmentation, and endocrine overactivity.黏液瘤、斑点状色素沉着和内分泌功能亢进综合征。
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