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
Abstract Views: 242
PDF_EARLY VIEW: 57
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.
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.
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
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.
Copyright (c) 2025 The Author(s)
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
PAGEPress has chosen to apply the Creative Commons Attribution NonCommercial 4.0 International License (CC BY-NC 4.0) to all manuscripts to be published.
Similar Articles
- A. Brunelli, C. Pompili, M. Salati, Low-technology exercise test in the preoperative evaluation of lung resection candidates , Monaldi Archives for Chest Disease: Vol. 73 No. 2 (2010): Pulmonary series
- C. Kotoulas, S. Meraj, N.J. Odom, Asymptomatic fatal post-lobectomy hemopericardium , Monaldi Archives for Chest Disease: Vol. 69 No. 3 (2008): Pulmonary series
- Caterina Oriana Aragona, Andrea Bianco, Roberto Caruso, Massimo Cerulli, Nicola Cosentino, Antonio Cittadini, Michele Gabriele, Mario Mallardo, Roberto Marini, Bruna Miserrafiti, Pietro Palermo, Alfonso Galati, Lipid-lowering therapy in patients with coronary heart disease: an Italian real-life survey. Results from the Survey on Risk FactOrs and CardiovascuLar secondary prEvention and drug strategieS (SOFOCLES) in Italy , Monaldi Archives for Chest Disease: Early Access
- A. Zanini, S. Della Patrona, A.L. Facchini, A. Spanevello, Induced sputum in the management of COPD: clinical implications , Monaldi Archives for Chest Disease: Vol. 77 No. 1 (2012): Pulmonary series
- Duilio Tuniz, Enzo Petri, Maurizio Carone, Guglielmo Bernardi, Paolo M. Fioretti, Cardiac Rehabilitation and resuming sexual activity , Monaldi Archives for Chest Disease: Vol. 62 No. 3 (2004): Cardiac series
- Cinzia Nugara, Giuseppe Vitale, Giuseppa Caccamo, Silvia Sarullo, Francesco Giallauria, Antonino Di Franco, Silvia Vitale, Filippo M. Sarullo, Effect of intravenous iron replacement therapy on exercise capacity in iron deficient anemic patients after cardiac surgery , Monaldi Archives for Chest Disease: Vol. 90 No. 1 (2020)
- Ornella Bettinardi, Giulio Vidotto, Loretta Moroni, Roberto F.E. Pedretti, Maurizio Maini, Alessandro Rosi, Giorgio Bertolotti, Measuring change in rehabilitative cardiology: reliability of a short questionnaire to assess an outcome , Monaldi Archives for Chest Disease: Vol. 78 No. 2 (2012): Cardiac series
- P.A. Canessa, L. Pratticò, M. Sivori, P. Magistrelli, F. Fedeli, A. Cavazza, G. Calcina, Acute Fibrinous and Organising Pneumonia in Whipple’s disease , Monaldi Archives for Chest Disease: Vol. 69 No. 4 (2008): Pulmonary series
- P. Carratù, G. Karageorgiou, P. Bonfitto, G. Di Gioia, D. Lacedonia, M.P. Foschino Barbaro, O. Resta, Long term evaluation of mental fatigue by Maastricht Questionnaire in patients with OSAS treated with CPAP , Monaldi Archives for Chest Disease: Vol. 67 No. 1 (2007): Pulmonary series
- K. Pawelczyk, M. Marciniak, G. Kacprzak, J. Kolodziej, Surgical treatment of lung cancer in patients under 45 years of age , Monaldi Archives for Chest Disease: Vol. 65 No. 4 (2006): Pulmonary series
<< < 19 20 21 22 23 24 25 26 27 28 > >>
You may also start an advanced similarity search for this article.
