# Case Report: Left ventricular apical hypertrophy in a patient with Leopard syndrome mimicking a cardiac tumor: a diagnostic challenge resolved by multimodality imaging

## TL;DR

A 41-year-old woman with LEOPARD syndrome had heart symptoms initially mistaken for a tumor, but multimodal imaging revealed apical hypertrophy and confirmed the genetic disorder.

## Contribution

Highlights the diagnostic value of multimodality imaging in identifying rare cardiac manifestations of LEOPARD syndrome.

## Key findings

- Transthoracic echocardiogram initially suggested an apical tumor, but CMR revealed apical myocardial hypertrophy.
- Multimodality imaging and clinical features led to the diagnosis of LEOPARD syndrome confirmed by genetic testing.
- Follow-up CMR showed no significant change in the lesion over 3 months.

## Abstract

LEOPARD syndrome (LS) is a rare genetic disorder presenting various clinical manifestations from childhood, complicating its diagnosis. In this study, we aim to refine the imaging presentation of LS and emphasize the importance of multimodality imaging in enhancing diagnostic accuracy and preventing serious cardiovascular events.

A 41-year-old woman was admitted to hospital with a suspected apical tumor detected by a transthoracic echocardiogram (TTE), which was later identified as apical myocardial hypertrophy through cardiac magnetic resonance imaging (CMR). She had abnormal electrocardiograms from the age of 2 years and freckles around the age of 4 years. In recent years, she has been experiencing exertional dyspnea. Supplemental coronary computer tomography angiography (CCTA) revealed diffuse coronary dilatation. Both multimodality imaging and clinical manifestations led to a suspicion of LS, which was confirmed by subsequent genetic testing. The patient declined further treatment. A 3-month follow-up CMR showed no significant change in the lesion.

This report elucidates the diagnostic transition from an initial suspicion of an apical tumor by TTE to a definitive diagnosis of left ventricular apical hypertrophy by CMR in a 41-year-old woman with LS. It underscores the value of multimodality imaging (TTE, CCTA, CMR) in unraveling unusual cardiac manifestations in rare genetic disorders such as LS.