Editorial
Copyright ©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Aug 6, 2024; 12(22): 4859-4864
Published online Aug 6, 2024. doi: 10.12998/wjcc.v12.i22.4859
Bridging the gap in cardiac mass diagnosis: Advanced imaging, genetic associations, and biomarkers
Yi-Hao Loh, Xu-Lin Hong
Yi-Hao Loh, School of Medicine, School of Medicine, Zhejiang University, China, Hangzhou 310000, Zhejiang Province, China
Xu-Lin Hong, Department of Cardiology, Sir Run Run Shaw Hospital, College of Medicine, Zhejiang University, Hangzhou 310000, Zhejiang Province, China
Author contributions: Loh YH and Hong XL contributed to this paper; Loh YH originated the overall concept and manuscript outline, and contributed to the manuscript writing; Hong XL provided critical revisions; Loh YH and Hong XL edited the manuscript.
Conflict-of-interest statement: The authors declare that they have no conflict of interest to disclose.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Xu-Lin Hong, MD, Doctor, Department of Cardiology, Sir Run Run Shaw Hospital, College of Medicine, Zhejiang University, No. 3 East Qingchun Road, Hangzhou 310000, Zhejiang Province, China. 1028346604@zju.edu.cn
Received: March 11, 2024
Revised: May 4, 2024
Accepted: June 3, 2024
Published online: August 6, 2024
Processing time: 112 Days and 18.1 Hours
Abstract

In this editorial we comment on the article by Huffaker et al published in a recent issue of the World Journal of Clinical Cases. We focus on cardiac tumors linked to genetic syndromes and the differential diagnosis of cardiac masses. As cardiomyocytes lack the ability to actively divide, primary cardiac tumors are extremely rare across all ethnicities and age groups. Once they occur, these tumors are often associated with genetic mutations and, occasionally, genetic syndromes. This underscores the importance of considering genetic mutations and syndromes when encountering these cases. The more common growths in the heart are thrombi and vegetations, which can mimic tumors, further making the differential diagnosis challenging. Among the imaging techniques, contrast-enhanced cardiac magnetic resonance imaging has the highest sensitivity for differential diagnosis. To aid in the differential diagnosis of cardiac masses, especially thrombi, appropriate utilization of biomarkers (i.e. D-dimer level) may provide pivotal clinical implications. Employing a multidisciplinary approach that integrates personal history, epidemiological insights, imaging findings, genetic markers, and biomarkers is therefore critical in the diagnostic process of cardiac masses.

Keywords: Cardiac masses, Genetic syndromes, Thrombi, Imaging, D-dimer

Core Tip: The diagnosis of cardiac masses can be challenging because of their frequent atypical manifestations. Accurate differentiation between a thrombus, vegetation, and tumor requires a comprehensive approach that integrates imaging techniques, biomarkers, genetic testing, and a detailed medical history. The management strategies for these masses can vary significantly depending on the diagnosis, which has a direct impact on therapeutic outcomes.