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: 237
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
- Chiara Pedone, Stefano Urbinati, Maria Giovanna Pallotti, Giuseppe Pinelli, Obesity and cardiovascular disease: expected and unexpected relationship , Monaldi Archives for Chest Disease: Vol. 64 No. 1 (2005): Cardiac series
- Vincenzo Capuano, Norman Lamaida, Sergio Torre, Ernesto Capuano, Maria Immacolata Borrelli, Eduardo Capuano, Maria Maddalena Clarizia, Rocco Capuano, Carmela De Rosa, Ten year cardio-cerebro-vascular mortality and morbidity in a Southern Italy cohort: the VIP Project data , Monaldi Archives for Chest Disease: Vol. 80 No. 1 (2013): Cardiac series
- Enrico Vizzardi, Edoardo Sciatti, Ivano Bonadei, Natalia L. Pezzali, Carlo M. Lombardi, Marco Metra, Red cell distribution width and chronic heart failure: prognostic role beyond echocardiographic parameters , Monaldi Archives for Chest Disease: Vol. 84 No. 1-2 (2015): Cardiac series
- M. Malerba, G. Romanelli, Early cardiovascular involvement in Chronic Obstructive Pulmonary Disease , Monaldi Archives for Chest Disease: Vol. 71 No. 2 (2009): Pulmonary series
- Enrico Vassallo, Francesca Musella, Susanna Mosca, Laura Casaretti, Roberto Formisano, Giacomo Mattiello, Ada Bologna, Irma Fabiani, Francesco Gambardella, Laura Petraglia, Giuseppe Rengo, Dario Leosco, Pasquale Perrone-Filardi, Clinical and therapeutic value of carotid intima-media thickness , Monaldi Archives for Chest Disease: Vol. 76 No. 3 (2011): Cardiac series
- Amanda R. Jimenez, Arielle Shaeffer Weiss, Anthony C. Campagna, Use of pulmonary function test demographic data to identify high-risk patients for lung cancer screening , Monaldi Archives for Chest Disease: Vol. 88 No. 1 (2018)
- Gianfranco Beghi, Antonio De Tanti, Paolo Serafini, Chiara Bertolino, Antonietta Celentano, Graziella Taormina, Monitoring of hospital acquired pneumonia in patients with severe brain injury on first access to intensive neurological rehabilitation: First year of observation , Monaldi Archives for Chest Disease: Vol. 88 No. 1 (2018)
- Nicola Bernardi, Edoardo Sciatti, Edoardo Pancaldi, Fabio Alghisi, Andrea Drera, Raffaele Falco, Enrico Vizzardi, Coeliac and cardiovascular disease: a possible relationship between two apparently separate conditions , Monaldi Archives for Chest Disease: Vol. 93 No. 2 (2023)
- Francesco Vetta, Gabriella Locorotondo, Giampaolo Vetta, Maria Mignano, Sonia Bracchitta, Prognostic impact of frailty in elderly cardiac surgery patients , Monaldi Archives for Chest Disease: Vol. 87 No. 2 (2017)
- Roberto Carlon, Mario Zanchetta, Is obesity still a coronary risk factor? , Monaldi Archives for Chest Disease: Vol. 68 No. 3 (2007): Cardiac series
<< < 1 2 3 4 5 6 7 8 9 10 > >>
You may also start an advanced similarity search for this article.
