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
- Jyoti Kumari, Manish Advani, Gopal Purohit, Prevalence of pulmonary hypertension in chronic simple silicosis patients and its correlation with smoking history, occupation type, age and duration of silica exposure , Monaldi Archives for Chest Disease: Vol. 94 No. 4 (2024)
- Roberto Tramarin, Stefania De Feo, Marco Ambrosetti, Raffaele Griffo, Franco Maslowsky, Paola Vaghi, The Italian SurveY on carDiac rEhabilitation - 2008 (ISYDE-2008): a snapshot of current cardiac rehabilitation programmes and provides in Italy Part 2: ISYDE-2008 investigators and directory of italian cardiac rehabilitation centers , Monaldi Archives for Chest Disease: Vol. 70 No. 1 (2008): Cardiac series
- Marika Werren, Roberto Copetti, Nicola Gaibazzi, Franco Giada, Andrea Faggiano, Chiara Ricci, Pompilio Faggiano, Choosing wisely in cardiology: Five proposals from the Italian Association for Cardiovascular Prevention and Rehabilitation , Monaldi Archives for Chest Disease: Vol. 89 No. 2 (2019)
- Ugo Corrà, Massimo Piepoli, Andrea Giordano, Difference in prevalence of exertional oscillatory ventilation between healthy subjects and patients with cardiovascular disease , Monaldi Archives for Chest Disease: Vol. 90 No. 1 (2020)
- Paolo Cameli, Miriana d'Alessandro, Laura Bergantini, Elena Silvestri, Arianna Romaldi, Giacomo Emmi, Paola Parronchi, Elena Bargagli, A multicenter approach to evaluate omalizumab effectiveness in Samter’s triad , Monaldi Archives for Chest Disease: Vol. 90 No. 3 (2020)
- Nevin Taci Hoca, Ebru Ünsal, Koza Murat, Arzu Ertürk, Nermin Çapan, Can serum progranulin level be used as a prognostic biomarker in non-small cell lung cancer? , Monaldi Archives for Chest Disease: Vol. 93 No. 3 (2023)
- Deepak Sharma, Vinay V, Jitendra Kumar Saini, Prabhpreet Sethi, Sandeep Jain, Kumar Puskar, Elucidating diagnostic efficacy and safety of the procedure: cryobiopsy of endobronchial lesions with a flexible bronchoscope , Monaldi Archives for Chest Disease: Vol. 94 No. 4 (2024)
- Anna Jacob, Kranti Garg, Kashish Dutta, Varinder Saini, Deepak Aggarwal, Ajeet Sidana, Role of detailed psychological evaluation and treatment in pulmonary rehabilitation programs for patients with chronic obstructive pulmonary disease , Monaldi Archives for Chest Disease: Early Access
- Michele Correale, Deodata Montrone, Donato Lacedonia, Riccardo Ieva, Romano Bucci, Addolorata Corrado, Francesco Paolo Cantatore, Carmen Adriana Greco, Morena Concilio, Gaetano Serviddio, Maria Pia Foschino Barbaro, Matteo Di Biase, Natale Daniele Brunetti, Multiprofessional and Intrahospital Experience for Diagnosis and Treatment of Pulmonary Arterial Hypertension , Monaldi Archives for Chest Disease: Vol. 78 No. 4 (2012): Cardiac series
- E. Nardecchia, L. Perfetti, M. Castiglioni, D. Di Natale, A. Imperatori, N. Rotolo, Bullous lung disease and neurofibromatosis type-1 , Monaldi Archives for Chest Disease: Vol. 77 No. 2 (2012): Pulmonary series
<< < 40 41 42 43 44 45 46 47 48 49 > >>
You may also start an advanced similarity search for this article.
