Gorlin-Goltz综合征累及心脏:一种古老先天性疾病阴影中的新曙光。

IF 1.1 Q4 RESPIRATORY SYSTEM
Mihail Celeski, Andrea Segreti, Annunziata Nusca, Giuseppe Di Gioia, Raffaele Rinaldi, Gian Paolo Ussia, Francesco Grigioni
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引用次数: 0

摘要

PTCH1、PTCH2或SUFU基因的突变导致遗传性常染色体显性Gorlin-Goltz综合征(GGS),其特点是高外显率和可变表达。虽然其临床表现主要以多发基底细胞癌为特征,但文献中也报道了其他内分泌、神经、眼科、生殖器和呼吸系统的改变。尽管与心脏纤维瘤有关,但很少报道累及心血管。在此,我们报告一例不明原因的心肌炎患者,后来被诊断为GGS。我们讨论了这种关联的潜在潜在机制,强调了识别GGS个体心脏表现的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Cardiac involvement of Gorlin-Goltz syndrome: new light among the shadows of an old congenital disorder.

Mutations in the PTCH1, PTCH2, or SUFU genes cause the hereditary, autosomal dominant Gorlin-Goltz syndrome (GGS), which is characterized by high penetrance and variable expressivity. Although its clinical manifestations are primarily marked by multiple basal cell carcinomas, other endocrine, neurological, ophthalmologic, genital, and respiratory alterations have been reported in the literature. Despite the association with cardiac fibromas, cardiovascular involvement is rarely reported. Here, we present a case of a patient with myocarditis of unknown origin, later diagnosed with GGS. We discuss the potential underlying mechanisms of this association, emphasizing the importance of recognizing cardiac manifestations in GGS individuals.

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来源期刊
CiteScore
3.60
自引率
0.00%
发文量
1
审稿时长
12 weeks
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