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
- Sara Salim Ali, Imran Ahmed Qureshi, Ahmed Ayaz, Ainan Arshad, Awais Farhad, Bushra Jamil, Muhammad Rizwan Sohail, Etiology, clinical characteristics, and outcome of infective endocarditis: 10-year experience from a tertiary care center in Pakistan , Monaldi Archives for Chest Disease: Vol. 92 No. 4 (2022)
- Fortuna Lubrano, Ilaria Fucile, Maurizio Conte, Ciro Santoro, Francesco Rozza, Nicola De Luca, Costantino Mancusi, Adherence to Mediterranean diet among patients with acute cardiovascular events admitted in Cardiac Rehabilitation unit , Monaldi Archives for Chest Disease: Vol. 93 No. 3 (2023)
- Eirini-Chrisovalanto Bota, Dimitra Koumoundourou, Panagiota Ravazoula, Vasiliki Zolota, Charalambia Psachoulia, Maria Kardari, Theodoros Karampitsakos, Argyrios Tzouvelekis, Vasiliki Tzelepi, Fotios Sampsonas, A comprehensive analysis of GATA3 expression in carcinomas of various origins with emphasis on lung carcinomas , Monaldi Archives for Chest Disease: Vol. 94 No. 2 (2024)
- Emanuele Stirpe, Floriana Bardaro, Johanna Köhl, Synchronous lung cancer presenting with small cell carcinoma and squamous cell lung carcinoma: a case report , Monaldi Archives for Chest Disease: Vol. 94 No. 3 (2024)
- Cinzia Nugara, Annamaria Lo Voi , Davide Diana, Silvia Sarullo, Antonino Zarcone, Filippo M. Sarullo, A case of extensive biatrial clot straddling the patent foramen ovale , Monaldi Archives for Chest Disease: Vol. 91 No. 2 (2021)
- Sherif Mohamed, Omar Abdelwahab, Ashraf M. Elsherbiny, Nashwa Abd El-Aziz, The distress thermometer: a promising tool to screen patients with chronic respiratory diseases for emotional distress , Monaldi Archives for Chest Disease: Early Access
- Vinay V, Saraansh Bansal, Pallavi Purwar, Ravindra Kumar Dewan, Paras Verma, Shalini Mullick, Mallika Dixit, B Rama Phanindra , Kanishk Siddhartha, Thoracic follicular dendritic cell sarcoma - an outlandish presentation of a rare tumour with review of literature , Monaldi Archives for Chest Disease: Vol. 93 No. 2 (2023)
- Vittorio Palmieri, Antonio Palermo, Patients’ self-evaluation of symptoms, signs and compliance to therapy for heart failure surveillance: A pilot study on identification of worsening heart failure , Monaldi Archives for Chest Disease: Vol. 88 No. 2 (2018)
- Vaishali Verma, Sachin Sondhi, Rajesh Sharma, Kunal Mahajan, COVID-19 associated viral myocarditis: does it exist? , Monaldi Archives for Chest Disease: Vol. 90 No. 4 (2020)
- Mariana Gomes Tinoco, Margarida Castro, Luísa Pinheiro, Tamara Pereira, Margarida Oliveira, Sílvia Ribeiro, Nuno Ferreira, Olga Azevedo, António Lourenço, “Hot phase” clinical presentation of biventricular arrhythmogenic cardiomyopathy: when the perfect electrical storm spontaneously stops , Monaldi Archives for Chest Disease: Early Access
<< < 16 17 18 19 20 21 22 23 24 25 > >>
You may also start an advanced similarity search for this article.
