Synchronous Cardiac Fibroma and Medulloblastoma in Gorlin Syndrome: A Paradigmatic Case and Narrative Review

TL;DR

A child with Gorlin syndrome had both medulloblastoma and cardiac fibroma, and treating the brain tumor first with careful monitoring of the heart tumor led to a good outcome.

Contribution

This case highlights a successful conservative management strategy for cardiac fibroma while prioritizing medulloblastoma treatment in Gorlin syndrome.

Findings

Synchronous medulloblastoma and cardiac fibroma occurred in a child with Gorlin syndrome.

Conservative management of cardiac fibroma allowed timely medulloblastoma treatment without cardiac complications.

Long-term monitoring showed no recurrence of medulloblastoma and preserved heart function.

Abstract

What are the main findings?
In children with Gorlin syndrome, medulloblastoma (MB) and cardiac fibroma (CF) can occur synchronously.Timely initiation of MB therapy combined with conservative CF management can prevent delays in oncologic treatment while maintaining cardiac safety.

In children with Gorlin syndrome, medulloblastoma (MB) and cardiac fibroma (CF) can occur synchronously.

Timely initiation of MB therapy combined with conservative CF management can prevent delays in oncologic treatment while maintaining cardiac safety.

What is the implication of the main finding?
A possible alternative to cardiac tumor excision can be considered, preferring a conservative approach and prioritizing MB treatment.Routine echocardiography should be performed in early-onset SHH-MB cases to detect CF early.

A possible alternative to cardiac tumor excision can be considered, preferring a conservative approach and prioritizing MB treatment.

Routine echocardiography should be performed in early-onset SHH-MB cases to detect CF early.

Background: Gorlin syndrome (GS) is a rare autosomal dominant disorder, associated with pathogenic PTCH1 or SUFU variants, predisposing to tumors such as basal cell carcinoma, medulloblastoma (MB), odontogenic keratocyst, and, rarely, cardiac fibroma (CF). MB occurs in ~5% of GS cases, typically in early childhood, while CF appears in 1–3%. Their coexistence in childhood is extremely rare. This report describes a pediatric GS case with synchronous MB and CF, focusing on the management priorities between oncologic and cardiac interventions. Methods: A 15-year follow-up is reported for a girl diagnosed at 22 months with desmoplastic/nodular MB and left ventricular CF. GS diagnosis was based on clinical features, imaging, and confirmation of a pathogenic PTCH1 variant (c.3306+1G>T). A literature narrative review on CF in GS was also conducted. Results: MB gross total resection was followed by chemotherapy, during which ventricular tachycardia episodes occurred, managed with cardioversion and antiarrhythmics. Given the favorable prognosis of early-treated MB in GS, oncologic therapy was prioritized. Cardiac status was monitored with ECG, Holter, echocardiography, and cardiac MRI. An adapted AIEOP protocol minimized cardiotoxicity. CF was managed conservatively, with no further arrhythmias and preserved ventricular function throughout 15 years. MB has not recurred. Conclusions: In GS patients with concurrent MB and CF, prioritizing MB treatment and adopting a conservative, closely monitored approach to CF can yield excellent long-term outcomes. In children with MB, especially syndromic forms, routine echocardiography is recommended to detect CF. This case underscores the value of multidisciplinary care in managing complex GS presentations.

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