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
- Miguel Martins Carvalho, Tânia Proença, Ricardo Alves Pinto, Roberto Pinto, Filipe Macedo, Wernicke encephalopathy and beriberi disease presenting as STEMI-equivalent , Monaldi Archives for Chest Disease: Vol. 93 No. 4 (2023)
- Dimitrios Papadopoulos, Vlasios Skopas, Nikolaos Trakas, Eleni Papaefstathiou, Nikolaos Tzogas, Demosthenes Makris, Zoe Daniil, Konstantinos Gourgoulianis, Serum lactate dehydrogenase and its isoenzymes as predictors of clinical outcomes in acute exacerbation of chronic obstructive pulmonary disease: a retrospective analysis of a hospitalized cohort , Monaldi Archives for Chest Disease: Vol. 94 No. 2 (2024)
- Valeriy Ivanov, Yuliia Smereka, Volodymyr Rasputin, Kostiantyn Dmytriiev, Homocysteine and atrial fibrillation: novel evidences and insights , Monaldi Archives for Chest Disease: Vol. 93 No. 1 (2023)
- Iván Alejandro Elizalde Uribe, Diego Mendoza Lagos, Aldo César Cazares Diazleal, Elias Noel Andrade Cuellar, Gerardo Payró Ramírez, Family long QT syndrome type 2 associated with KCNH2 gene mutation: aborted sudden cardiac death , Monaldi Archives for Chest Disease: Vol. 94 No. 3 (2024)
- Rita Costa, Antonio Esquinas , Predictors of post-COVID syndrome. Getting ready for the future , Monaldi Archives for Chest Disease: Vol. 93 No. 3 (2023)
- Arturo Cesaro, Carmine Riccio, Paolo Calabrò, Lipid-lowering therapy in high cardiovascular risk patients during COVID-19 pandemic: keep focused on the target , Monaldi Archives for Chest Disease: Vol. 91 No. 2 (2021)
- Anton Dzian, Fúcˇela Ivan, Hut’ka Zdenko, Szépe Peter, Primary synchronous small and non-small cell lung cancer in the same lung lobe: A case report , Monaldi Archives for Chest Disease: Vol. 87 No. 3 (2017)
- Mamta Singh, Kunal Deokar, Bibhuti Prassan Sinha, Monika Keena, Govind Desai, Ocular manifestations of common pulmonary diseases: a narrative review , Monaldi Archives for Chest Disease: Vol. 94 No. 1 (2024)
- Rafael Martínez-Girón, Liron Pantanowitz, Pulmonary actinomycosis: cytomorphological features , Monaldi Archives for Chest Disease: Vol. 92 No. 2 (2022)
- Kenan Yalta, Ugur Ozkan, Tulin Yalta, Ertan Yetkin, Takotsubo syndrome in association with pheochromocytoma: clinical and practical considerations , Monaldi Archives for Chest Disease: Vol. 91 No. 4 (2021)
<< < 25 26 27 28 29 30 31 32 33 34 > >>
You may also start an advanced similarity search for this article.
