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
- Ana Isabel Pinho, Cátia Oliveira, Luís Daniel Santos, Catarina Marques, André Cabrita, Paula Dias, Gonçalo Pestana, Carla Sousa, Rui André Rodrigues, QT interval prolongation in Takotsubo syndrome: a frightening feature with no major prognostic impact , Monaldi Archives for Chest Disease: Vol. 94 No. 4 (2024)
- Amira Aishah Che Ani, Sakinah Mohd Akhir, Winnie Chiang Li-Xue, Nur Zurairah Shahidan, Azman Abd Hamid, Diffuse alveolar haemorrhage and myocardial infarction: life-threatening effects from self-injected hyaluronic acid dermal filler , Monaldi Archives for Chest Disease: Vol. 91 No. 4 (2021)
- Luis Miguel Acuña-Chávez, Claudia Cruzalegui-Bazán, Carlos Quispe-Vicuña, Clara Saldarriaga, Johanna Contreras, José A. Chávez-Peche, Mayita Alvarez-Vargas, Pedro Segura-Saldaña, Red blood cell distribution width to predict mortality in heart transplant recipients: a systematic review , Monaldi Archives for Chest Disease: Vol. 93 No. 2 (2023)
- Stefano Maffè, Pierfranco Dellavesa, Paola Paffoni, Luca Bergamasco, Marisa Arrondini, Stefano Valentini, Emanuela Facchini, Eleonora Prenna, Lara Baduena, Giulia Careri, Nicolò Franchetti Pardo, Umberto Parravicini, Takotsubo syndrome and pheochromocytoma: an insidious combination , Monaldi Archives for Chest Disease: Vol. 91 No. 3 (2021)
- Catarina Amaral Marques, André Cabrita, Paulo Araújo, Tânia Proença, Ricardo Pinto, Miguel Carvalho, Catarina Costa, Ana Amador, João Calvão, Cristina Cruz, Acute myocardial infarction during late COVID-19 era: patient characteristics, presentation and outcomes , Monaldi Archives for Chest Disease: Vol. 93 No. 4 (2023)
- Vipul Prakash, Arjun Kumar, Lokesh Kumar Saini, Barun Kumar, Girish Sindhwani, Prakhar Sharma, Ruchi Dua, Ravi Gupta, Mayank Mishra, Proportion of sleep-related breathing disorders and their association with echocardiographic parameters in stable patients with chronic obstructive pulmonary disease: a cross-sectional observational exploratory study , Monaldi Archives for Chest Disease: Early Access
- 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)
- Mohammad Abu-Hishmeh, Laura Miranda, Fouzia Shakil, Tauseef Ahmed, Oleg Epelbaum, Hammering home the sickle: an instructive case of endobronchial anaplastic large cell lymphoma , Monaldi Archives for Chest Disease: Vol. 91 No. 3 (2021)
<< < 15 16 17 18 19 20 21 22 23 24 > >>
You may also start an advanced similarity search for this article.
