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, neuro...

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Main Authors: Mihail Celeski, Andrea Segreti, Annunziata Nusca, Giuseppe Di Gioia, Raffaele Rinaldi, Gian Paolo Ussia, Francesco Grigioni
Format: Article
Language:English
Published: PAGEPress Publications 2025-02-01
Series:Monaldi Archives for Chest Disease
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Online Access:https://www.monaldi-archives.org/macd/article/view/3251
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Summary: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.
ISSN:1122-0643
2532-5264