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
- Vidushi Rathi, Pranav Ish, Comments on “Clinical, radiological and histopathological profile of patients with endobronchial lesions on fibreoptic bronchoscopy” by Sarma et al. , Monaldi Archives for Chest Disease: Vol. 93 No. 4 (2023)
- Federico Raimondi, Stefano Centanni, Fabrizio Luppi, Stefano Aliberti, Francesco Blasi, Paola Rogliani, Claudio Micheletto, Marco Contoli, Alessandro Sanduzzi Zamparelli, Marialuisa Bocchino, Paolo Busatto, Luca Novelli, Simone Pappacena, Luca Malandrino, Giorgio Lorini, Greta Carioli, Fabiano Di Marco, Respiratory rate-oxygenation index on the 3rd day is the best predictor of treatment failure in COVID-19 patients , Monaldi Archives for Chest Disease: Vol. 94 No. 4 (2024)
- Vijay Hadda, Tejas Menon Suri, Sourabh Pahuja, Mohamad El-Khatib, Laura D. Ciobanu, Bruno Cabrita, Habib Md Reazaul Karim, Igor Barjaktarevic, Claudia Crimi, Giancarlo Garuti, Saurabh Mittal, Pawan Tiwari, Karan Madan, Anant Mohan, Zuhal Karakurt, Antonio Esquinas, Secretion management in patients with ineffective airway clearance with non-invasive mechanical ventilation use: Expert guidance for clinical practice , Monaldi Archives for Chest Disease: Vol. 91 No. 4 (2021)
- Domenico Galzerano, Seemi Saba , Abdullah Al Sergani, Olga Vriz, Khalil Alghalayini, Khushnooda Ramzan, Isra Elmahi, Antonio Cittadini, Giovanni Di Salvo, Valeria Pergola, Features and behavior of valvular abnormalities in adolescent and adult patients in mucopolysaccharidosis: an echocardiographic study , Monaldi Archives for Chest Disease: Vol. 91 No. 4 (2021)
- Vito Maurizio Parato, Germana Gizzi, Simone D'Agostino, Simona Pelliccioni, Michele Scarano, An unusual case of severe left ventricle outflow tract obstruction due to a coexistence of Takotsubo cardiomyopathy with septal hypertrophic cardiomyopathy , Monaldi Archives for Chest Disease: Vol. 92 No. 3 (2022)
- Nishant Kumar Chauhan, Ashish Agarwal, Naveen Dutt, Taruna Yadav, Rishabh Kochar, Pulmonary embolism and gastric bleed with disseminated mucormycosis - treading dangerous waters , Monaldi Archives for Chest Disease: Vol. 93 No. 3 (2023)
- Murali Mupparapu, Rajesh Venkataram, Nandakishore Baikunje, Ivor D’Sa, Chandramouli Mandya Thimmaiah, Assessment of left ventricular function in subjects with chronic obstructive pulmonary disease , Monaldi Archives for Chest Disease: Vol. 94 No. 4 (2024)
- Matteo Vigna, Piero Ceriana, Mara Santomassimo, Michele Vitacca, Mauro Maniscalco, Nicolino Ambrosino, Effects of pulmonary rehabilitation in survivors of severe acute respiratory syndrome coronavirus 2. Role of vaccination , Monaldi Archives for Chest Disease: Vol. 94 No. 3 (2024)
- Maria Grazia Romeo, Emanuele Pilato, Raffaele Giordano, Giuseppe Comentale, Gabriele Iannelli, Domenico Romeo, Bruna Miserrafiti, Luigi Di Tommaso, Asymptomatic giant ascending aortic aneurysm: a challenging surgical strategy for a silent bicuspid aortopathy , Monaldi Archives for Chest Disease: Early Access
- Paola Gargiulo, Carmen D'Amore, Santo Dellegrottaglie, Dario Leosco, Giuseppe Rengo, Francesca Musella, Elisabetta Pirozzi, Susanna Mosca, Laura Casaretti, Roberto Formisano, Ada Bologna, Antonio Parente, Sirio Conte, Pasquale Perrone-Filardi, From myocardium to the atherosclerotic plaque: new perspectives in cardiologic imaging , Monaldi Archives for Chest Disease: Vol. 76 No. 2 (2011): Cardiac series
<< < 51 52 53 54 55 56 57 > >>
You may also start an advanced similarity search for this article.
