Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.
J Stroke Cerebrovasc Dis. 2012 Nov;21(8):914.e1-8. doi: 10.1016/j.jstrokecerebrovasdis.2012.01.006. Epub 2012 Feb 15.
Intracardiac myxomas in Carney complex are significant causes of cardiovascular morbidity and mortality through embolic stroke and heart failure. The genetic, clinical, and laboratory characteristics of Carney complex-related strokes from atrial myxomas have not been described. The regulatory subunit (R1A) of the protein kinase gene (PRKAR1A) is mutated in >60% of patients with Carney complex.
We studied patients with strokes and cardiac myxomas that were hospitalized in our institution and elsewhere; a total of 7 patients with 16 recurrent atrial myxomas and >14 episodes of strokes were identified.
Neurologic deficits were reported; in 1 patient, an aneurysm developed at the site of a previous stroke. All patients were females, were also diagnosed with Cushing syndrome, and all had additional tumors or other Carney complex manifestations. Other than gender, although there was a trend for patients being overweight and hypertensive, no other risk factors were identified. A total of 5 patients (71%) had a PRKAR1A mutation; all mutations (c418_419delCA, c.340delG/p.Val113fsX15, c.353_365del13/p.Ile118fsX6, c.491_492delTG/p.Val164fsX4, and c.177+1G>A) were located in exons 3 to 5 and introns 2 to 3, and all led to a non-sense PRKAR1A mRNA.
Female patients with Carney complex appear to be at a high risk for recurrent atrial myxomas that lead to multiple strokes. Early identification of a female patient with Carney complex is of paramount importance for the early diagnosis of atrial myxomas and the prevention of strokes.
心脏黏液瘤是卡尼综合征的重要心血管发病率和死亡率原因，可引起栓塞性卒中及心力衰竭。心脏黏液瘤相关卒中的遗传、临床和实验室特征尚未被描述。蛋白激酶基因（PRKAR1A）的调节亚基（R1A）在超过 60%的卡尼综合征患者中发生突变。
我们研究了在我们机构和其他地方住院的患有卒中及心脏黏液瘤的患者；共确定了 7 名患有 16 次复发性心房黏液瘤和 >14 次卒中的患者。
报告了神经功能缺损；1 名患者在以前卒中的部位发生了动脉瘤。所有患者均为女性，还被诊断患有库欣综合征，并且均存在其他肿瘤或其他卡尼综合征表现。除了性别，尽管患者超重和高血压的趋势明显，但未发现其他危险因素。共 5 名患者（71%）存在 PRKAR1A 突变；所有突变（c418_419delCA、c.340delG/p.Val113fsX15、c.353_365del13/p.Ile118fsX6、c.491_492delTG/p.Val164fsX4 和 c.177+1G>A）均位于外显子 3 至 5 和内含子 2 至 3，并且均导致 PRKAR1A mRNA 无义。
卡尼综合征的女性患者似乎存在复发性心房黏液瘤的高风险，这可导致多次卒中。早期识别卡尼综合征的女性患者对于早期诊断心房黏液瘤和预防卒中至关重要。
