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[卡尼综合征:家族性心脏黏液瘤]

[Carney's Complex: familial cardiac myxoma].

作者信息

Guerra Miguel S, Santos Nelson, Neves Fátima, Carlos Mota João, Miranda José António, Vouga Luis

机构信息

Serviço de Cirurgia Cardio-Torácica do Centro Hospitalar de Vila Nova de Gaia.

出版信息

Rev Port Cir Cardiotorac Vasc. 2006 Apr-Jun;13(2):79-81.

Abstract

The Carney Complex is a very rare autosomal dominant disease including multiple neoplasia syndrome. This syndrome was initially described in 1985 under the rubric "...the complex of myxomas, spotty pigmentation, and endocrine overactivity". We present a case report of an old woman with Carney Complex who had the characteristic features of facial hirsutism and acromegalic facies, a large pigmented swelling over the face and a cardiac myxoma arising from the left atrium. We emphasize the need for periodic echocardiographic screening of patients and family members.

摘要

卡尼综合征是一种极为罕见的常染色体显性疾病,包括多种肿瘤形成综合征。该综合征最初于1985年在“……黏液瘤、斑点状色素沉着和内分泌功能亢进的复合体”这一标题下被描述。我们报告一例患有卡尼综合征的老年女性病例,其具有面部多毛症和肢端肥大症面容的特征性表现、面部巨大色素沉着性肿物以及起源于左心房的心脏黏液瘤。我们强调对患者及其家庭成员进行定期超声心动图筛查的必要性。

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