Aspres Nicholas, Bleasel Narelle R, Stapleton Karen M
Department of Dermatology, Liverpool Hospital, Australia.
Australas J Dermatol. 2003 May;44(2):121-2. doi: 10.1046/j.1440-0960.2003.00657.x.
Carney complex is a rare cardiocutaneous syndrome with an autosomal-dominant inheritance pattern. Apart from its cutaneous manifestations of multiple blue naevi and lentigines, it can involve multiple other organ systems, particularly the heart, where myxoma tumours commonly develop and can potentially lead to serious complications such as cerebrovascular accidents and myocardial infarction. Recently, a specific mutation in the gene encoding the R1-alpha regulatory subunit of cyclic adenosine monophosphate-dependent protein kinase A (PRKAR1alpha) has been discovered and found to be associated with a high risk of developing cardiac myxomas. We report the case of a Carney-complex family member who displayed no observable clinical or cardiac features of the disease but who was found to be positive for the PRKAR1alpha gene mutation on genetic testing. Further evaluation of this patient subsequently led to the discovery of a 3-cm atrial myxoma that had previously been undetected on cardiac assessment. This case highlights the potential benefits of using genetic screening for this disease.
卡尼综合征是一种罕见的心脏皮肤综合征，具有常染色体显性遗传模式。除了其多发性蓝色痣和雀斑样痣的皮肤表现外，它还可累及多个其他器官系统，特别是心脏，心脏通常会发生黏液瘤肿瘤，并可能导致严重并发症，如脑血管意外和心肌梗死。最近，在编码环磷酸腺苷依赖性蛋白激酶A（PRKAR1α）的R1-α调节亚基的基因中发现了一种特定突变，并发现其与发生心脏黏液瘤的高风险相关。我们报告了一例卡尼综合征家族成员，该成员未表现出该疾病可观察到的临床或心脏特征，但在基因检测中发现其PRKAR1α基因突变呈阳性。对该患者的进一步评估随后发现了一个3厘米的心房黏液瘤，该黏液瘤在心脏评估中此前未被发现。该病例突出了对这种疾病进行基因筛查的潜在益处。
