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.

中文翻译：

---

预测卡尼复合体心脏粘液瘤的风险。

目的

Carney 复合体 (CNC) 是一种常染色体显性遗传的多发性肿瘤和雀斑样痣综合征。我们旨在确定与心脏粘液瘤发生和复发相关的风险因素，心脏粘液瘤是 CNC 患者死亡的主要原因。

方法

在 1995 年至 2020 年期间，前瞻性地监测了 CNC 患者的心脏粘液瘤发展情况。

结果

在研究的 319 名患者中，136 名（42.6%）出现粘液瘤。诊断时女性的平均年龄为 28.7 ± 16.6 岁，男性为 25.0 ± 16.4 岁。到 30 岁时，35% 的女性和 45% 的男性患有至少一种粘液瘤。在粘液瘤患者中，CNC 相关病变、痣、皮肤、粘膜或乳腺粘液瘤、甲状腺结节、垂体腺瘤和神经鞘瘤的发生率明显更高（均p  < 0.05）。44% 的患者复发；男性和女性几乎分别在头 8 年和 16 年内发生。复发在女性中更为常见。

结论

这是迄今为止规模最大的研究，并首次按年龄和性别对 CNC 患者心脏粘液瘤的风险进行了评估。心脏粘液瘤在 30 岁时很常见，并且经常复发，尤其是在女性中，但风险会在 10 到 20 年内下降。这些发现可以指导患者咨询、筛查间隔和手术方法。

临床试验注册

临床试验注册：定义原发性色素性结节性肾上腺皮质疾病和卡尼复合体发展的遗传基础，注册号：NCT00001452 URL：https://clinicaltrials.gov/ct2/show/NCT00001452。