“Complexity of Carney complex”: a case series form a single expert center for rare endocrine diseases

A. Nankova*^a (Dr), T. Kamenova^a (Dr), A. Elenkova^a (Prof), S. Zacharieva^a (Prof)

^a Medical University, Sofia, Sofia, BULGARIA

* aninankova89@gmail.com

Introduction: Carney complex is a rare, autosomal dominant disorder, caused in most patients by mutations in the PRKAR1A gene. It is characterized by different endocrine tumors, pigmented skin and mucosal lesions, cardiac, cutaneous and other myxomas.

Case series presentation: We present a case series of 4 adult patients with proven gene mutations in the PRKAR1A gene.

CLINICAL PRESENTATION: Case 1: A 30-year old female, diagnosed at the age of 3 years with cardiac myxoma, successfully extirpated; 9 months after surgery cyclic form of ACTH-independent Cushing’s syndrome was diagnosed. Case 2: A 29- year old female, diagnosed with ACTH-independent Cushing’s at the age of 13 years. Bilateral adrenalectomy was performed (2006, 2016). Microprolactinoma was diagnosed (2020) and D2-agonist treatment was initiated. Case 3&4: A 34-year-old male with adrenal adenoma and 53-year-old woman (his mother) with normal adrenal glands on CT-scan; both of them were three times operated on for recurrent cardiac myxomas; laboratory constellation suspicious of autonomous cortisol hypersecretion.

All of our patients had skin manifestations (pigmented spots, multiple cutaneous myxomas). Three of them have thyroid nodules (cases 1,3,4), one of them (case 3) was referred for FNAB.

CONCLUSION: Essentially Carney complex is a multiple endocrine neoplasia syndrome. However, it has many other aspects with the most common causes of death being the complications of heart myxomas. Furthermore, the increased risk for some malignant tumors associated with this rare genetic syndrome requires careful surveillance for improving the long-term outcome of these patients.

Acknowledgements: We would like to thank prof. Constantine Stratakis for genetic analysis performed at the NIH, Bethesda.

The author has declared no conflict of interest.