Key result
A 42-year-old woman was diagnosed with Carney complex characterized by a rare left atrial adenomyxoma, Cushing syndrome, and a pathogenic PRKAR1A gene mutation.
Why the study?
Carney complex is a rare multiple endocrine neoplasia syndrome, and the authors reported a case with a PRKAR1A mutation characterized by left atrial adenomyxoma to explore diagnosis and treatment.
Case Report (n=1)
Carney complex should be considered in patients presenting with multiple endocrine and non-endocrine tumors, particularly Cushing syndrome and cardiac myxoma, and genetic analysis is recommended.
Supports Carney complex evaluation in myxoma patients with endocrine tumors; extends PRKAR1A phenotypic descriptions in case literature.
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.
No takes yet. Share an insight, caveat, or question.
Xu et al. (2023) conducted a case report in Carney complex (n=1). Diagnostic evaluation and symptomatic management was evaluated. A 42-year-old woman was diagnosed with Carney complex characterized by a rare left atrial adenomyxoma, Cushing syndrome, and a pathogenic PRKAR1A gene mutation.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: