ORIGINAL RESEARCH article
Front. Oncol.
Sec. Cardio-Oncology
Volume 15 - 2025 | doi: 10.3389/fonc.2025.1590877
Familial Carney Complex with Embolic Ischemic Stroke: A Case Report and Literature Review
Provisionally accepted
Tingting LuoMengxing YinLijin LiMengjiao SunZhen LiPengge LiMengmeng LiuXinxin SunZhanyi WuYifan LiuLulu ZhangZhiyao WangSuyun Hou
Shaohua Hua*- First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China
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Background: Carney complex (CNC) is a rare autosomal dominant multiple neoplasia syndrome characterized by cutaneous and mucosal pigmented lesions, cardiac myxomas, and various endocrine and non-endocrine tumors.We report a familial case of CNC presenting initially with embolic ischemic stroke. Comprehensive clinical evaluation, imaging studies, histopathological examination, and genetic analysis were performed on the proband and family members, with a literature review summarizing the clinical features of CNC.Results: A pathogenic PRKAR1A mutation was identified in affected family members, who exhibited typical clinical features of CNC. The proband presented with stroke secondary to cardiac myxoma, highlighting the importance of early recognition in patients with multi-system manifestations.Conclusions: CNC should be suspected in young patients presenting with cardiac myxoma and stroke. Clinicians should maintain high vigilance for patients with multi-system symptoms and complex family histories. Comprehensive family history assessment and genetic testing facilitate early diagnosis of CNC.
Keywords: Carney Complex, Myxoma, embolic ischemic stroke, PRKAR1A, Multiple Endocrine Neoplasia
Received: 14 Mar 2025; Accepted: 31 Jul 2025.
Copyright: © 2025 Luo, Yin, Li, Sun, Li, Li, Liu, Sun, Wu, Liu, Zhang, Wang, Hou and Hua. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Shaohua Hua, First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan Province, China
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