Therapy » Carney complex: A case of a rare disease in cardiological practice

Carney complex: A case of a rare disease in cardiological practice

DOI: https://dx.doi.org/10.18565/therapy.2024.4.135-138

Kravchenko A.Ya., Budnevsky A.V.
N.N. Burdenko Voronezh State Medical University of the Ministry of Healthcare of Russia

Abstract. A clinical case of a rare pathology in a 21-year-old patient – recurrent cardiac myxoma in combination with pigmented nodular adrenal hyperplasia, blue nevi, testicular tumor from Sertoli cells, nodular goiter, which corresponds to the diagnosis of “Carney complex”, first described by Carney J.A. et al. in 1985 is described in the article. Carney complex is a multidisciplinary problem that requires awareness of therapists, who may meet signs of the disease in its early stages and must, in this case, promptly refer the patient to a specialized endocrinological center for molecular genetic research and treatment.

Keywords: rare diseases, recurrent cardiac myxoma, Carney complex

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Literature

1. Carney J.A., Gordon H., Carpenter P.C. et al. The complex of myxomas, spotty pigmentation and endocrine overactivity. Medicine (Baltimore). 1985; 64(4): 270–83.

https://doi.org/10.1097/00005792-198507000-00007. PMID: 4010501.

2. Орлова Е.М., Карева М.А. Карни-комплекс – синдром множественных эндокринных неоплазий. Проблемы эндокринологии. 2012; 58(3): 22–30. (Orlova E.M., Kareva M.A. Carney complex is a syndrome of multiple endocrine neoplasia. Carney complex – multiple endocrine neoplasia syndrome. Problemy endokrinologii = Problems of Endocrinology. 2012; 58(3): 22–30 (In Russ.)). EDN: RUZOPX.

3. Stratakis C.A., Kirshner L.S., Carney J.A. Clinical and molecular features of the Carney complex, diagnostic criteria and recommendations for patient evaluation. Clin Endocrinol Metab. 2001; 86(9): 4041–46.

https://doi.org/10.1210/jcem.86.9.7903. PMID: 11549623.

4. Edward A., Bermudez C., Piwonka G. et al. Carney’s syndrome: Complex myxomas. Report of four cases and review of the literature. Cardiovasc Surg. 2002; 10(3): 264–75.

https://doi.org/10.1177/096721090201000314. PMID: 12044436.

5. Almeida M.Q., Stratakis C.A. Carney complex and other conditions associated with micronodular adrenal hyperplasias. Best Pract Res Clin Endocrinol Metab. 2010; 24(6): 907–14.

https://doi.org/10.1016/j.beem.2010.10.006. PMID: 21115159. PMCID: PMC3000540.

6. Kirschner L.S., Sandrini F., Monbo J. et al. Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex. Hum Mol Genet. 2000; 9(20): 3037–46.

https://doi.org/10.1093/hmg/9.20.3037. PMID: 11115848.

7. Pereira A.M., Hes F.J., Horvath A. et al. Asociation of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families. J Clin Endocrinol Metab. 2010; 95(1): 338–42.

https://doi.org/10.1210/jc.2009-0993. PMID: 19915019. PMCID: PMC2805491.

8. Koolman J., Roehm K.H. Color atlas of biochemistry. 2nd edition, revised and enlarged. Stuttgart – New York: Thieme. 2005; 467 pp. ISBN: 3-13-100372-3 (GTV). ISBN: 1-58890-247-1 (TNY).

9. Beuschlein F., Fassnacht M., Assie G. et al. Constitutive activation of PKA catalytic subunit in adrenal Cushing’s syndrome. N Engl J Med. 2014; 370(11): 1019–28.

https://doi.org/10.1056/NEJMoa1310359. PMID: 24571724. PMCID: PMC4727447.

10. Forlino A., Vetro A., Garavelli L. et al. PRKACB and Carney complex. N Engl J Med. 2014; 370(11): 1065–67.

https://doi.org/10.1056/NEJMc1309730. PMID: 24571725.

About the Autors

Andrey Ya. Kravchenko, MD, Dr. Sci. (Medicine), professor of the Department of faculty therapy of N.N. Burdenko Voronezh State Medical University of the Ministry of Healthcare of Russia. Address: 394036, Voronezh, 10 Studencheskaya St.
E-mail: drkay@yandex.ru
ORCID: https://orcid.org/0000-0003-0297-1735
Andrey V. Budnevsky, MD, Dr. Sci. (Medicine), professor, head of the Department of faculty therapy of N.N. Burdenko Voronezh State Medical University of the Ministry of Healthcare of Russia. Address: 394036, Voronezh, 10 Studencheskaya St.
E-mail: avbudnevski@vrngmu.ru
ORCID: https://orcid.org/0000-0002-1171-2746

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