Recurrent cardiac and skin myxomas along with acromegaly: A case report of carney complex

Carney complex (CNC) is an uncommon multisystem endocrine disorder with significant variability of clinical manifestations including mucocutaneous areas (pigmented lesions, myxomas, blue nevi, etc.), endocrine tumors (adrenal, pituitary, thyroid glands, or testicles), and non-endocrine tumors [cardiac myxomas, psammomatous melanotic schwannomas (PMS), breast myxomas as well as ductal adenomas, and osteochondromyxomas]. To our knowledge, this is the second report of CNC in Iran, presenting with typical manifestations.

A 29-year-old man was referred to our clinic to evaluate the likelihood of CNC because of recurrent cardiac myxomas. He sometimes suffered from self-limited episodes of non-exertional palpitation, dyspnea, weakness, and pallor. He had some features of acromegaly (such as increase in acral size and frontal bossing). The laboratory tests revealed a high insulin-like growth factor 1 (IGF1) level, with no growth hormone (GH) suppression after oral glucose tolerance test (OGTT). Pituitary magnetic resonance imaging (MRI) showed a microadenoma (5.79 × 2.80 mm) of the pituitary gland; then, he was diagnosed with CNC, having the following major criteria: recurrent cardiac myxomas, skin myxomas, and acromegaly due to GH pituitary microadenoma, as well as minor criteria: multiple cafe´-au-lait (CAL) spots, several skin tags and moles, and thyroid nodules. In this patient, laboratory tests for Cushing’s syndrome were equivocal, whereas pheochromocytoma was proven biochemically but unexpectedly pathology did not confirm it. Rather, the pathology of the right adrenocortical specimen revealed nodular hyperplasia.

For patients with recurrent cardiac myxoma, especially with skin myxoma, the diagnosis of CNC should be considered and the search for other associations should be done even in an asymptomatic patient.