ABC | Volume 114, Nº4, Suplement, April 2020

Case Report Cervantes et al. Recurrent Atrial Myxoma in a Patient with Carney Complex Arq Bras Cardiol 2020; 114(4Suppl.1):31-33 The gene PRKAR1A is a key component of the cellular signaling pathway of cyclic adenosine monophosphate (cAMP) involved in tumorigenesis. Therefore, this pathology could be considered a form of multiple endocrine neoplasia with involvement of the adrenal, pituitary, thyroid glands and gonads. 3,6,9 Cerebrovascular disease can be the presentation of CM. 10 Besides, neurological manifestations have a typical presentation in young patients with predominance in males, being the main clinical presentation of our case. Conclusion CNC is a rare entity that is associated with multiple cutaneous and endocrinological manifestations, and is related to the appearance and recurrence of myxomas. CNC must be suspected in any patient with recurrent CM. In patients diagnosed with CNC, a complete and multidisciplinary approach should be followed both on the patient and on close relatives meeting some diagnostic criteria, since they could be carriers of mutations of gene PRKAR1A. Diagnosis of Carney Table 1 – Endocrine profile IGF-1 922 ng/ml (z. Score: +4.8) ACTH 22.6 pmol/l PRL 3.42 ng/dl Cortisol 33.01 mcg/dl TSH 7.26 mcU/ml T4l 2.34 complex should be considered when it fulfills the diagnostic criteria even if the genetic test is not available or confirmed. Author contributions Conception and design of the research: Cervantes-Molina LA, Masini-Aguilera ID, Pineda-De Paz DO; Acquisition of data: Cervantes-Molina LA, Masini-Aguilera ID, Pineda-De Paz DO; Writing of the manuscript: Cervantes-Molina LA, Machuca-Hernández M, Pineda-De Paz DO; Critical revision of the manuscript for intellectual content: Cervantes-Molina LA, Cedillo-Ramírez D, Masini-Aguilera ID, López Taylor JG, Machuca-Hernández M, Pineda-De Paz DO. Potential Conflict of Interest No potential conflict of interest relevant to this article was reported. Sources of Funding There were no external funding sources for this study. Study Association This study is not associatedwith any thesis or dissertationwork. Ethics approval and consent to participate This article does not contain any studies with human participants or animals performed by any of the authors. Table 2 – Major diagnostic criteria according to Stratakis 1 - Cutaneous lentiginosis with typical distribution (lips, conjunctiva, mucous membranes) 2 - Myxoma (cutaneous and mucosal) or cardiac myxoma 3 - Mammary myxomatosis or MRI findings suggestive of the diagnosis 4 - Pigmented primary nodular disease or paradoxical increase in the excretion of urinary glucocorticoids after dexamethasone administration 5 - Acromegaly associated with pituitary adenoma producing GH 6 - Testicular tumor of large calcified sertoli cells or presence of calcifications in testicular ultrasound 7 - Thyroid carcinoma or presence of multiple hypoechoic nodules in prepubertal thyroid ultrasound 8 - Psammomatous melanocytic schwannomas 9 - Blue nevus, multiple epithelioid blue nevus 10 - Multiple ductal mammary adenomas 11 - Osteochondromyoma Supplementary Criteria 1 - Affected family member 2 - Presence of inactivating mutations of the PRKAR1A gene 3 - Activating variants of the PRKACA gene or PRKACB gene 32