Year: 2025
Type: article
Study design: Case Report
Abstract: 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. Methods: 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: 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.
Source: Frontiers in Oncology
Authors: Tingting Luo, Mengxing Yin, Lijin Li, Mengjiao Sun, Zhen Li, Pengge Li, Mengmeng Liu, Xinxin Sun, Zhanyi Wu, Yifan Liu, Lulu Zhang, Zhiyao Wang, Suyun Hou, Shaohua Hua
Language: English
Topic: Cardiac tumors and thrombi
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,801
OpenAlex ID: W4413291357