Carney complex - clinical case presentation and literature review

Abstract

Introduction. Carney complex (CNC) is a rare genetic disorder with multisystem involvement. Endocrine manifestations include primary pigmented nodular adrenocortical disease with Cushing’s syndrome, pituitary tumors secreting GH and/ or prolactin, thyroid and gonadal tumors. Non-endocrine tumors associated with CNC include myxomas of the heart, breast, and skin; ductal adenomas of the breast, cutaneous lentigines, psammomatous melanocytic schwannomas, osteochondromyxomas, and an increased predisposition to various malignancies. Case presentation. Patient X.Y, a 54-year -old woman, was diagnosed in 2013 with GH-secreting pituitary microadenoma and underwent surgery via a transfrontal approach. In 2022, the patient presented with dyspnea on moderate exertion, hypertensive episodes, retrosternal discomfort, vertigo, headache. Echocardiography revealed a 20 × 30 mm mass, attached to the interatrial septum, suggestive of a left atrial myxoma. IGF 1 was 218 ng/ml (reference range 67.3-201), while the other hormonal axes were normal. The patient underwent minimally invasive cardiac surgery for myxoma resection, without postoperative complications. At 6 months after intervention, echocardiography showed no residual mass, interatrial septal defect or valvular regurgitation. As IGF-1 had remained slightly elevated for over 10 years and repeated MRI scans during this period showed no recurrence, pituitary somatotroph cell hyperplasia was assumed. The patient reported adverse reactions to dopamine agonists, and therefore octreotide 10 mg, intramuscular monthly was initiated. Conclusions. Cardiac myxomas are the leading cause of mortality in CNC, early diagnosis is imperative to reduce cardiovascular mortality and improve quality of life.