Cardiology - Case Reports
February 3, 2025
Early Access
https://doi.org/10.4081/monaldi.2025.3251

Cardiac involvement of Gorlin-Goltz syndrome: new light among the shadows of an old congenital disorder

Publisher's note
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.
Gorlin-Goltz syndrome, basal cell naevus syndrome, myocarditis, myocardial injury, cardiovascular screening
348
Views
82
Downloads

Authors

Mihail Celeski
https://orcid.org/0000-0002-6374-1821
Fondazione Policlinico Universitario Campus Bio-Medico, Rome; Unit of Cardiovascular Sciences, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Italy.
Andrea Segreti
a.segreti@policlinicocampus.it
https://orcid.org/0000-0003-2631-8642
Fondazione 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", Italy.
Annunziata Nusca
Fondazione Policlinico Universitario Campus Bio-Medico, Rome; Unit of Cardiovascular Sciences, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Italy.
Giuseppe Di Gioia
https://orcid.org/0000-0002-9158-5440
Department of Movement, Human and Health Sciences, University of Rome "Foro Italico"; Institute of Sports Medicine and Science, Italian National Olympic Committee, Rome, Italy.
Raffaele Rinaldi
Fondazione Policlinico Universitario Campus Bio-Medico, Rome; Unit of Cardiovascular Sciences, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Italy.
Gian Paolo Ussia
Fondazione Policlinico Universitario Campus Bio-Medico, Rome; Unit of Cardiovascular Sciences, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Italy.
Francesco Grigioni
Fondazione Policlinico Universitario Campus Bio-Medico, Rome; Unit of Cardiovascular Sciences, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Italy.

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.

Altmetrics

Downloads

Download data is not yet available.

Citations

Crossref
Scopus
Google Scholar
Europe PMC
Verkouteren BJA, Cosgun B, Reinders MGHC, et al. A guideline for the clinical management of basal cell naevus syndrome (Gorlin-Goltz syndrome). Br J Dermatol 2022;186:215-26. DOI: https://doi.org/10.1111/bjd.20700
Wilke PI, Biermann D, Grafmann M, et al. Siblings with Gorlin-Goltz syndrome associated with cardiac tumors: a case report and review of literature. Orphanet J Rare Dis 2023;18:178. DOI: https://doi.org/10.1186/s13023-023-02792-5
Ritter AL, Granquist EJ, Iyer VR, Izumi K. Cardiac fibroma with ventricular tachycardia: an unusual clinical presentation of nevoid basal cell carcinoma syndrome. Mol Syndromol 2018;9:219-23. DOI: https://doi.org/10.1159/000489056
Kluger N, Marco-Baertich I, Guillot B. Late onset of cardiac tumour in naevoid Basal cell carcinoma (Gorlin) syndrome. Acta Derm Venereol 2007;87:272-3. DOI: https://doi.org/10.2340/00015555-0228
Herceg S, Dilber D, Šarić D, et al. 190 left ventricle cardiac fibroma in a patient with gorlin – goltz syndrome. Arch Dis Childhood 2021;106:A80-1. DOI: https://doi.org/10.1136/archdischild-2021-europaediatrics.190
Caforio AL, Pankuweit S, Arbustini E, et al. Current state of knowledge on aetiology, diagnosis, management, and therapy of myocarditis: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2013;34:2636-48, 2648a-2648d. DOI: https://doi.org/10.1093/eurheartj/eht210
Gambini D, Passoni E, Nazzaro G, et al. Basal cell carcinoma and hedgehog pathway inhibitors: focus on immune response. Front Med 2022;9:893063. DOI: https://doi.org/10.3389/fmed.2022.893063
Gampala S, Yang JY. Hedgehog pathway inhibitors against tumor microenvironment. Cells 2021;10:3135. DOI: https://doi.org/10.3390/cells10113135
Zotova L. Immune checkpoint inhibitors-related myocarditis: a review of reported clinical cases. Diagnostics 2023;13:1243. DOI: https://doi.org/10.3390/diagnostics13071243
Lupu M, Caruntu C, Ghita MA, et al. Gene expression and proteome analysis as sources of biomarkers in basal cell carcinoma. Dis Markers 2016;2016:9831237. DOI: https://doi.org/10.1155/2016/9831237
Ammirati E, Raimondi F, Piriou N, et al. Acute myocarditis associated with desmosomal gene variants. JACC Heart Fail 2022;10:714-27. DOI: https://doi.org/10.1093/eurheartj/ehac544.1682

How to Cite



“Cardiac Involvement of Gorlin-Goltz Syndrome: New Light Among the Shadows of an Old Congenital Disorder”. 2025. Monaldi Archives for Chest Disease, February. https://doi.org/10.4081/monaldi.2025.3251.
Copyright (c) 2025 The Author(s) Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.