Overall approaches to cardiac tumors: Still an unsolved enigma?

Abstract

Cardiac tumors are neoplasms involving heart structures at any level, meaning the myocardium, valves, and cardiac chambers. When considering cardiac masses, it is not uncommon for surgeons to be surprised when they diagnose one. The real incidence of this complex group of diseases has been explored only after cardiac diagnostic tools became more appropriate. Despite differential diagnosis being relevant, surgical indication is usually requested for all malignant cardiac tumors and also for many types of benign tumors. The development of cardiac imaging techniques, therefore, has been the key point for a better understanding of the history of cardiac tumors and especially of the relevance of surgical indication in such conditions. Systematic and combined applications of echocardiography, cardiac computed tomography and magnetic resonance allow in the majority of case a clear definition of the nature of a newly discovered cardiac mass. The presence of a Li-Fraumeni syndrome seems to be the trigger aspect in accelerating the propensity of developing a cardiac tumor. Despite the revolutionary usefulness of the cardiac imaging techniques available, it is still considered a hazard to diagnose a malignant cardiac mass just with radiological imaging; the mainstay of the final diagnosis stands in surgical excision of the mass and histopathological report.

Key Words: Cardiac tumor, Cardiac surgery, Pre-neoplastic syndrome, Differential diagnosis, Li-Fraumeni syndrome

Core Tip: When considering cardiac masses, it is not uncommon for surgeons to be surprised when they diagnose one. Differential diagnosis with other benign masses is pivotal in order to give patients the best medical care. In order to do so, a mixture of some of the most used radiological resources need to be exploited, such as echocardiography, cardiac computed tomography and magnetic resonance.

INTRODUCTION

Cardiac tumors are neoplasms involving heart structures at any level, meaning the myocardium, valves, and cardiac chambers. The first cardiac tumor was described by the pathologist Realdus Columbus, but the first diagnosis of such disease in a living patient was not made until 1934[1-2].

OVERALL APPROACHES TO CARDIAC TUMORS: ARE THEY STILL AN UNSOLVED ENIGMA?

Delay in diagnosis is one of the main characteristics of such group of diseases, and this is why years ago cardiac tumors were only diagnosed post-mortem[3]. The real incidence of this complex group of diseases has been explored only after cardiac diagnostic tools became more appropriate[4-7]. Despite being an overall rare condition reported in nearly 14 patients over 1.000000 of inhabitant, the spectrum of cardiac tumors is quite complex, as explained in 2015 by the World Health Organization who presented a new classification of primary cardiac tumors, the latter divided in benign tumors, uncertain biological behavior tumors, germ cell tumors, and malignant tumors[2]. It has to be underlined that cardiac tumors are often identified with the generic definition of cardiac masses, but they actually represent only one of the possible diagnoses of a cardiac mass. Thrombus, vegetation and structural abnormalities represent indeed potential misleading condition requiring a proper differential diagnosis[8]. Despite differential diagnosis being relevant, surgical indication is usually requested for all malignant cardiac tumors and also for many types of benign tumors, such as myxoma and fibroelastoma[1-3].

CONCLUSION

Laboratory tests or specific tumor markers are not currently available for cardiac tumors and in this respect circulating tumor DNA could represent a future perspective[4]. The development of cardiac imaging techniques, therefore, has been the key point for a better understanding of the history of cardiac tumors and especially of the relevance of surgical indication in such conditions. Systematic and combined applications of echocardiography, cardiac computed tomography and magnetic resonance allow in the majority of case a clear definition of the nature of a newly discovered cardiac mass[5-9]. Final diagnosis, however, remains uncertain at least until surgical removal and histological analysis of the mass. In the manuscript presented by Huffaker et al[10] in the current number of World Journal of Clinical Cases the focus seems to be in the presence of a Li-Fraumeni syndrome, a rare familial tumor predisposition syndrome caused by an autosomal dominant mutation in a P53 tumor suppressor gene on chromosome 17. In this case, however, the presence of a Li-Fraumeni syndrome seems to be just the trigger aspect in accelerating the “idea” more than the “diagnosis” of cardiac tumor despite the unspecific aspect of the right-sided cardiac mass presented in their patient[10]. In their manuscript the authors clearly describe their approach to decision making process and eventually the suggestion, based on modern cardiac imaging technique, that the cardiac mass could have been a potentially dangerous tumor rather than a thrombus[9] which could have been the diagnosis preferred based on natural history. This probably led to the final message that even magnetic resonance cannot be 100% specific in the complete characterization of a suspect cardiac mass. On the other hand, however, borrowing an old proverb of an Italian region called Tuscany which gave birth to Dante Alighieri, the key message seems to be that the best attitude when managing suspected cardiac tumor in young adults should be “better to be afraid of it than to suffer for it”. This probably is the attitude followed worldwide by many cardiac centers when facing a young patient with a cardiac mass. Paradoxically the evidence showed in the manuscript by Huffaker et al[10] that cardiac mass diagnosed at nuclear magnetic resonance (the top diagnostic tool for cardiac mass characterization) as tumor turned down to be a thrombus, further strengthening the hypothesis that, especially in young patients, surgical excision (with consequent biopsy) should be the best approach in case of suspicious intracardiac masses.