Predicting the risk of cardiac myxoma in Carney complex

Abstract

Purpose

Carney complex (CNC), is an autosomal dominant multiple neoplasia and lentiginosis syndrome. We aimed to identify risk factors associated with the occurrence and recurrence of cardiac myxomas, the predominant cause of death in CNC patients.

Methods

Patients with CNC were monitored prospectively between 1995 and 2020 for the development of cardiac myxomas.

Results

Of the 319 patients studied, 136 (42.6%) developed myxomas. The mean age at diagnosis was 28.7 ± 16.6 years in females and 25.0 ± 16.4 years in males. By age 30, 35% of females and 45% of males had at least one myxoma. The CNC-related lesions, lentigines, cutaneous, mucosal, or breast myxomas, thyroid nodules, pituitary adenoma, and schwannoma were significantly more frequent (all p < 0.05) among patients with myxomas. Forty-four percent of patients had recurrences; nearly all within the first 8 and 16 years for males and females, respectively. Recurrences were more common in females.

Conclusion

This is the largest study to date and provides the first-time risk estimates by age and gender for cardiac myxomas in CNC patients. Cardiac myxomas are common by age 30 and often recur, especially in women, but the risk drops in 10 to 20 years. These findings may guide patient counseling, screening intervals, and surgical approaches.

Clinical Trial Registration

Clinical Trial Registration: Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease and the Carney complex, Registration number: NCT00001452 URL: https://clinicaltrials.gov/ct2/show/NCT00001452.

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Fig. 1: Kaplan–Meier curve of the age to first observed myxoma grouped by gender.
Fig. 2: Kaplan–Meier curve of time to first recurrence grouped by gender.

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Acknowledgements

We would like to thank all of the Carney complex patients and their families for participating in this study. This work was supported by the research project Z01-HD008920 (principal investigator: C.A.S.) of the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH) (Bethesda, MD, USA). The funding source had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; or preparation, review, or approval of the manuscript.

Disclosure

C.A.S. holds patents on technologies involving PRKAR1A and related genes; his laboratory has also received research funding support by Pfizer Inc. for work unrelated to this subject investigation. The other authors declare no conflicts of interest.

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Correspondence to Georgia Pitsava MD.

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Pitsava, G., Zhu, C., Sundaram, R. et al. Predicting the risk of cardiac myxoma in Carney complex. Genet Med (2020). https://doi.org/10.1038/s41436-020-00956-3

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Keywords

  • Carney complex (CNC)
  • PRKAR1A
  • cardiac myxoma
  • tumor
  • recurrence

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