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

ABSTRACT:

Background

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.

Case

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 tomograp

SUBMITTER: Liu H 

PROVIDER: S-EPMC11299493 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature