Predicting the risk of cardiac myxoma in Carney complex

Georgia Pitsava, Chunming Zhu, Rajeshwari Sundaram, James L Mills, Constantine A Stratakis, Georgia Pitsava, Chunming Zhu, Rajeshwari Sundaram, James L Mills, Constantine A Stratakis

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://ichgcp.net/clinical-trials-registry/NCT00001452.

Keywords: Carney complex (CNC); PRKAR1A; cardiac myxoma; recurrence; tumor.

Conflict of interest statement

CONFLICTS OF INTEREST

The authors declare no conflicts of interest.

Figures

Figure 1.
Figure 1.
Kaplan-Meier curve of the age to first observed myxoma grouped by gender. The first event occurred at an earlier age in men as compared to women (p

Figure 2.

Kaplan-Meier curve of time to…

Figure 2.

Kaplan-Meier curve of time to first recurrence grouped by gender. It takes years…

Figure 2.
Kaplan-Meier curve of time to first recurrence grouped by gender. It takes years for the myxoma to recur for the first time in women compared to men (p=0.013).Myxomas recurred sooner in women com/ women had a first recurrence sooner than men
Figure 2.
Figure 2.
Kaplan-Meier curve of time to first recurrence grouped by gender. It takes years for the myxoma to recur for the first time in women compared to men (p=0.013).Myxomas recurred sooner in women com/ women had a first recurrence sooner than men

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