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Gazzetta Medica Italiana - Archivio per le Scienze Mediche 2022 April;181(4):278-81

DOI: 10.23736/S0393-3660.20.04464-2

Copyright © 2020 EDIZIONI MINERVA MEDICA

lingua: Inglese

The role of cardiologist in the multidisciplinary approach of Gorlin Syndrome: report of a case of supraventricular arrhythmias

Marianna GIUDITTA 1, Emanuela PASSONI 2, Anna MINUTI 2 , Gianluca NAZZARO 2

1 Unit of Cardiology, Foundation IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy; 2 Unit of Dermatology, Foundation IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy



Gorlin Syndrome, also called basal cell nevus syndrome or nevoid basal cell carcinoma syndrome (NBCCS), is a rare autosomal dominant familial syndrome characterized by a wide range of abnormalities, early-onset basal cell carcinomas and cancer predisposition. Basal cell nevus syndrome is caused by mutations in the patched 1 (PTCH1) a tumor suppressor gene located on chromosome 9q. Approximately 3% of patients with NBCCS can be affected by cardiac fibromas, that, although are often asymptomatic, may obstruct blood flow or cause arrhythmia. Cardiac fibromas are typically present in infancy, although they can be developed up to the age of 60 years. Heart ultrasound examination is provided within the assisted diagnostic and therapeutic pathways for patients with Gorlin Syndrome. We describe a case of a 71-year-old male patient, symptomless, affected by Gorlin Syndrome (heterozygosis PTCH 1 gene not described in literature), diagnosed after onco-dermatological examination. He underwent to cardiovascular assessment within the multidisciplinary diagnostic path, thus revealing supraventricular arrhythmias. A careful assessment by a multidisciplinary team in patients with Gorlin Syndrome leads to identify the patient’s risk profile in the onco-dermatological and cardiological fields.


KEY WORDS: Cardiology; Neoplasms; Case reports

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