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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| Format: | Article |
| Language: | English |
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PAGEPress Publications
2025-02-01
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| 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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| author | Mihail Celeski Andrea Segreti Annunziata Nusca Giuseppe Di Gioia Raffaele Rinaldi Gian Paolo Ussia Francesco Grigioni |
| author_facet | Mihail Celeski Andrea Segreti Annunziata Nusca Giuseppe Di Gioia Raffaele Rinaldi Gian Paolo Ussia Francesco Grigioni |
| author_sort | Mihail Celeski |
| collection | DOAJ |
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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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| format | Article |
| id | doaj-art-e2ac49e3d2d2453cb7827a030fcc8117 |
| institution | Kabale University |
| issn | 1122-0643 2532-5264 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | PAGEPress Publications |
| record_format | Article |
| series | Monaldi Archives for Chest Disease |
| spelling | doaj-art-e2ac49e3d2d2453cb7827a030fcc81172025-02-04T01:40:02ZengPAGEPress PublicationsMonaldi Archives for Chest Disease1122-06432532-52642025-02-0110.4081/monaldi.2025.3251Cardiac involvement of Gorlin-Goltz syndrome: new light among the shadows of an old congenital disorderMihail Celeski0https://orcid.org/0000-0002-6374-1821Andrea Segreti1https://orcid.org/0000-0003-2631-8642Annunziata Nusca2Giuseppe Di Gioia3https://orcid.org/0000-0002-9158-5440Raffaele Rinaldi4Gian Paolo Ussia5Francesco Grigioni6Fondazione Policlinico Universitario Campus Bio-Medico, Rome; Unit of Cardiovascular Sciences, Department of Medicine and Surgery, Università Campus Bio-Medico di RomaFondazione Policlinico Universitario Campus Bio-Medico, Rome; Unit of Cardiovascular Sciences, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma; Department of Movement, Human and Health Sciences, University of Rome "Foro Italico"Fondazione Policlinico Universitario Campus Bio-Medico, Rome; Unit of Cardiovascular Sciences, Department of Medicine and Surgery, Università Campus Bio-Medico di RomaDepartment of Movement, Human and Health Sciences, University of Rome "Foro Italico"; Institute of Sports Medicine and Science, Italian National Olympic Committee, RomeFondazione Policlinico Universitario Campus Bio-Medico, Rome; Unit of Cardiovascular Sciences, Department of Medicine and Surgery, Università Campus Bio-Medico di RomaFondazione Policlinico Universitario Campus Bio-Medico, Rome; Unit of Cardiovascular Sciences, Department of Medicine and Surgery, Università Campus Bio-Medico di RomaFondazione Policlinico Universitario Campus Bio-Medico, Rome; Unit of Cardiovascular Sciences, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma 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. https://www.monaldi-archives.org/macd/article/view/3251Gorlin-Goltz syndromebasal cell naevus syndromemyocarditismyocardial injurycardiovascular screening |
| spellingShingle | Mihail Celeski Andrea Segreti Annunziata Nusca Giuseppe Di Gioia Raffaele Rinaldi Gian Paolo Ussia Francesco Grigioni Cardiac involvement of Gorlin-Goltz syndrome: new light among the shadows of an old congenital disorder Monaldi Archives for Chest Disease Gorlin-Goltz syndrome basal cell naevus syndrome myocarditis myocardial injury cardiovascular screening |
| title | Cardiac involvement of Gorlin-Goltz syndrome: new light among the shadows of an old congenital disorder |
| title_full | Cardiac involvement of Gorlin-Goltz syndrome: new light among the shadows of an old congenital disorder |
| title_fullStr | Cardiac involvement of Gorlin-Goltz syndrome: new light among the shadows of an old congenital disorder |
| title_full_unstemmed | Cardiac involvement of Gorlin-Goltz syndrome: new light among the shadows of an old congenital disorder |
| title_short | Cardiac involvement of Gorlin-Goltz syndrome: new light among the shadows of an old congenital disorder |
| title_sort | cardiac involvement of gorlin goltz syndrome new light among the shadows of an old congenital disorder |
| topic | Gorlin-Goltz syndrome basal cell naevus syndrome myocarditis myocardial injury cardiovascular screening |
| url | https://www.monaldi-archives.org/macd/article/view/3251 |
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