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Surveillance of a large cardiac fibroma in a patient with Gorlin syndrome
  1. Rumneek Hampal,
  2. Kristopher Knott and
  3. Anna Marciniak
  1. Cardiology, St George's University Hospitals NHS Foundation Trust, London, UK
  1. Correspondence to Dr Rumneek Hampal; rumneek.hampal{at}

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A male in his 80s was found incidentally to have a large mass in the right ventricle (RV) noted on CT imaging. This mass was further characterised with echocardiography, dedicated cardiac CT (figure 1A-B) and cardiovascular magnetic resonance (CMR) imaging (figure 1C–F).

Figure 1

Multimodality imaging in the patient with a cardiac fibroma secondary to Gorlin syndromeCardiac CT scan images demonstrating a partially calcified mass in the RV-free wall (A), which was poorly perfused on contrast-enhanced cardiac CT scan (B). Short-axis CMR cine image demonstrated a well-circumscribed mass within the RV (C), which was isointense on T1-weighted imaging (D), hypointense in T2-weighted imaging (E) and demonstrated extensive, heterogeneous enhancement post contrast (F). CMR, cardiovascular magnetic resonance; RV, right ventricle.

The patient had a known diagnosis of Gorlin syndrome (GS) and was under routine dermatology follow-up. He met clinical diagnostic criteria for GS in the fact that he has had over 100 basal cell carcinomas (BCCs) removed since 1997, facial congenital malformation (otopalatodigital syndrome), prognathism and increased head circumference. The clinical impression, given his underlying diagnosis of GS, following multimodality imaging, was that the mass represented a benign cardiac fibroma. The patient had no symptoms of cardiac failure.

The cardiac mass was not clearly visualised on transthoracic echocardiography; however, there were no features of RV dysfunction. Dedicated cardiac CT imaging demonstrated a large, 53×37 mm, well-circumscribed, partially calcified mass within the RV-free wall which was poorly perfused (non-contrast study, figure 1A, and contrast enhanced, figure 1B). CMR confirmed a well-defined mass (cine, figure 1C) that was isointense on T1-weighted imaging (figure 1D) and hypointense on T2-weighted imaging (figure 1E). There was minimal enhancement on first pass perfusion imaging but extensive, heterogeneous late gadolinium enhancement (figure 1F).

GS, also termed nevoid BCC syndrome, is a rare hereditary condition characterised by early development of BCCs, odontogenic jaw keratocysts and musculoskeletal abnormalities.1 The prevalence of GS is estimated to be approximately 1 in 30 000 people in the UK.2 GS is inherited in an autosomal dominant fashion; it is caused by a mutation in the tumour suppression patched 1 (PTCH1) gene leading to increased tumour development.3

The rate of cardiac fibroma formation in patients with GS is 3%.4 Current guidance states that screening echocardiography should be performed in young patients diagnosed with GS given the risk of cardiac fibroma formation.5 Management of cardiac fibromas requires a multidisciplinary specialist approach, in children and younger patients surgical resection or cardiac transplant are considered.6 Current European Society of Cardiology guidance stipulates that surgical resection must be considered regardless of symptoms given the risk of arrhythmia or possible impedance of ventricular outflow.7 We demonstrate that, in a rare case of cardiac fibroma detection in an older patient with GS, a conservative approach involving surveillance with dedicated CMR was sufficient as opposed to consideration of surgical intervention. In the 4 years of surveillance since detection, there has been little to no radiographic change and this patient has remained asymptomatic from a cardiac perspective.

Learning points

  • Gorlin syndrome is a rare genetic syndrome characterised by multiple basal cell carcinomas and early echocardiography is essential in detecting the presence of cardiac fibromas.

  • A multimodality imaging approach in the investigation of cardiac masses is often required for tissue characterisation and diagnosis. The current international guidance for management states that surgery should be considered regardless of symptoms.

  • In selected patients, there may be a role for regular active surveillance in the case of benign cardiac masses that are not causing compromise as opposed to surgical intervention as demonstrated in this case.

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  • Contributors RH devised and wrote the manuscript. KK sourced and formatted the images. KK and AM reviewed the final manuscript prior to submission.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.