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
- Ananda Datta, Satya Padmaja Mantha, Suvradeep Mitra, Prasanta Raghab Mohapatra, M Srikanth Goud, Manoj Kumar Panigrahi, ROS1 positive non-small cell lung cancer with pulmonary embolism in a 22-year woman , Monaldi Archives for Chest Disease: Vol. 90 No. 3 (2020)
- Cristiano Cesaro, Umberto Caterino, Fabio Perrotta, Umberto Masi, Alessandra Cotroneo, Roberta Cianci, Enzo Zamparelli, Flavio Cesaro, Dario Amore, Danilo Rocco, Alectinib rescue therapy in advanced ALK rearranged lung adenocarcinoma: a case report , Monaldi Archives for Chest Disease: Vol. 93 No. 3 (2023)
- Carla Simonelli, Michele Vitacca, Beatrice Salvi, Manuela Saleri, Mara Paneroni, Comparison among three different follow-up models for obstructive sleep apnea syndrome patients: focus on the physiotherapist’s role , Monaldi Archives for Chest Disease: Vol. 94 No. 4 (2024)
- Bandar Alamro, Valeria Pergola, Abdalla Eltayeb, Amal Alshammari, Naji Kholaif, Ahmad Alhamshari, Mohammed Al Admawi, Shamayel Mohammed, Feras Khaliel, Domenico Galzerano, Role of three-dimensional transesophageal echocardiography in cardiac myxomas: an imaging challenge , Monaldi Archives for Chest Disease: Vol. 94 No. 3 (2024)
- Laith Ashour, Zaid Taimeh, Moaiad Hussein, Zeid Jarrar, Nicola Hanna Madani, Noor Mnaa, Layan Ayesh, Ahmad Odeh, Sama Samer Abu Monshar, Muath Mohammad Dabas, Rawan Almejaibal, Waist circumference and altered metabolic indices are associated with increased resting pulse rate in middle-aged adults , Monaldi Archives for Chest Disease: Early Access
- Maurizio Giuseppe Abrignani, Giovanni De Luca, Michele Gabriele, Nidal Tourkmani, The Health Department of Sicily “Regional recommendations for hospital discharge and communication with patients after admission due to a cardiologic event†Decree , Monaldi Archives for Chest Disease: Vol. 82 No. 2 (2014): Cardiac series
- Sabino Scardi, Paolo Umari, Bianca Maria D’Agata, Lower is better: ENHANCE affair , Monaldi Archives for Chest Disease: Vol. 70 No. 2 (2008): Cardiac series
- G.V. Scagliotti, S. Novello, G. Selvaggi, Cytotoxic chemotherapy in advanced non-small cell lung cancer , Monaldi Archives for Chest Disease: Vol. 63 No. 4 (2005): Pulmonary series
- P.A. Canessa, L. Pratticò, L. Bancalari, F. Fedeli, B. Bacigalupo, S. Silvano, Respiratory bronchiolitis associated with interstitial lung disease , Monaldi Archives for Chest Disease: Vol. 61 No. 3 (2004): Pulmonary series
- Deepen Sharma, Rakhee Khanduri, Shailendra Raghuvanshi, Smita Chandra, Sushant Khanduri, Varuna Jethani, Manoj Kumar, Clinical, radiological and histopathological profile of patients with endobronchial lesions on fibreoptic bronchoscopy , Monaldi Archives for Chest Disease: Vol. 93 No. 3 (2023)
<< < 39 40 41 42 43 44 45 46 47 48 > >>
You may also start an advanced similarity search for this article.
