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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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
description 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.
format Article
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institution Kabale University
issn 1122-0643
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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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