Abstract

Background

“Carney Complex (CNC) is a familial lentiginosis syndrome, caused by PRKAR1A mutations that lead to cyclic AMP-dependent protein kinase (PKA) signaling pathway abnormalities, predisposing to a variety of skin tumors, myxomas and endocrine tumors.

Methods/results

We describe a Greek family diagnosed with CNC after recurrent embolic strokes, secondary to left-sided atrial myxomas. There are limited cases in the literature describing this type of presentation for CNC; typically, most cases present with an endocrine syndrome. Our case serves as a reminder of this rare, underdiagnosed syndrome and its wide phenotypic spectrum. It is followed by a review of the current literature on cases with cerebrovascular disease as a manifestation of CNC.

Conclusion

The co-occurrence of emboligenic cardiac myxomas and skin lesions should be an indication for screening for CNC.

中文翻译：

---

Carney 综合征表现为心源性卒中：一例报告并文献复习

摘要

背景

“Carney 复合体 (CNC) 是一种家族性雀斑样痣病综合征，由PRKAR1A突变引起，导致环 AMP 依赖性蛋白激酶 (PKA) 信号通路异常，易患多种皮肤肿瘤、粘液瘤和内分泌肿瘤。

方法/结果

我们描述了一个希腊家庭在复发性栓塞性卒中后诊断为 CNC，继发于左侧心房粘液瘤。文献中描述这种 CNC 演示类型的案例有限；通常，大多数病例都存在内分泌综合征。我们的案例提醒人们注意这种罕见的、诊断不足的综合征及其广泛的表型谱。随后回顾了当前关于脑血管疾病病例作为 CNC 表现的文献。

结论

栓塞性心脏粘液瘤和皮肤病变同时发生应作为筛查 CNC 的指征。