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- Title
A case report and literature review of Carney complex with atrial adenomyxoma.
- Authors
Xu, Jing; Ye, Meng; Li, Po; Xu, Shujing; Zhang, Miao; Shi, Lixin; He, Juan
- Abstract
Background: Carney complex (CNC) is a rare multiple endocrine neoplasia syndrome characterized by mucocutaneous lentigines/ blue nevi, cardiac myxoma and endocrine overactivity. Here, we report a CNC case with PRKAR1A gene mutation characterized by left atrial adenomyxoma to explore the diagnosis and treatment of CNC. Case presentation: A 42-year-old woman with a history of cardiac tumour surgery presented with typical features of Cushing syndrome, including central obesity, buffalo hump, mild facial plethora, purple striae on the lower abdomen, and spotty skin pigmentation. Left atrial adenomyxoma and thyroid papillary carcinoma were identified by postoperative histologic assays. Genetic screening revealed a pathogenic germline heterozygous mutation of c.682C > T (p.R228X) in exon 7 of the PRKAR1A gene. The clinical features and normal ACTH levels suggest this patient suffered the ACTH-independent primary pigmented nodular adrenocortical disease (PPNAD) with cyclic hypercortisolism or ACTH-dependent Cushing syndrome. Conclusion: CNC is uncommon, however, if a patient develops clinical features involving multiple endocrine and non-endocrine tumors, especially Cushing syndrome and cardiac myxoma, CNC should be considered. Genetic analysis is recommended in patients with suspected CNC.
- Subjects
BREAST ultrasound; OBESITY; PHYSICAL diagnosis; DIGITAL image processing; HYPERTENSION; GENETIC mutation; CUSHING'S syndrome; HYPERGLYCEMIA; PHOTON absorptiometry; THYROIDECTOMY; ACARBOSE; PIGMENTATION disorders; PAPILLARY carcinoma; THYROID gland tumors; GLYCEMIC control; ENALAPRIL; METOPROLOL; GENETIC testing; DIETARY supplements; OSTEOPOROSIS; HISTOLOGICAL techniques; NUMBNESS; CONTROLLED release preparations; CARNEY complex; VISION disorders; COMPUTED tomography; BONE density; LUMBAR vertebrae; METFORMIN; LEFT heart atrium; NEEDLE biopsy; DISEASE complications
- Publication
BMC Endocrine Disorders, 2023, Vol 23, Issue 1, p1
- ISSN
1472-6823
- Publication type
Article
- DOI
10.1186/s12902-023-01285-7