https://doi.org/10.4081/monaldi.2025.3251
Cardiac involvement of Gorlin-Goltz syndrome: new light among the shadows of an old congenital disorder
Published: February 3, 2025
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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Authors
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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How to Cite
Celeski, Mihail, Andrea Segreti, Annunziata Nusca, Giuseppe Di Gioia, Raffaele Rinaldi, Gian Paolo Ussia, and Francesco Grigioni. 2025. “Cardiac Involvement of Gorlin-Goltz Syndrome: New Light Among the Shadows of an Old Congenital Disorder”. Monaldi Archives for Chest Disease, February. https://doi.org/10.4081/monaldi.2025.3251.
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