Approach to cardiac masses: Thinking inside and outside the box

In this editorial we comment on the article by Huffaker et al,published in the current issue of the World Journal of Clinical Cases.Cardiac masses encompass a broad range of lesions,potentially involving any cardiac structure,and they can be either neoplastic or non-neoplastic.Primitive cardiac tumors are rare,while metastases and pseudotumors are relatively common.Cardiac masses frequently pose significant diagnostic and therapeutic challenges.Multimodality imaging is fundamental for differential diagnosis,treatment,and surgical planning.In particular cardiac magnetic resonance(CMR)is currently the gold standard for noninvasive tissue characterization.CMR allows evaluation of the relationship between the tumor and adjacent structures,detection of the degree of infiltration or expansion of the mass,and prediction of the possible malignancy of a mass with a high accuracy.Different flow charts of diagnostic work-up have been proposed,based on clinical,laboratory and imaging findings,with the aim of helping physicians approach the problem in a pragmatic way(“thinking inside the box”).However,the clinical complexity of cancer patients,in particular those with rare syndromes,requires a multidisciplinary approach and an open mind to go beyond flow charts and diagnostic algorithms,in other words the ability to“think outside the box”.

Complexity in interpreting cardiac valve-associated thrombus from tumors in Li-Fraumeni syndrome

Li-Fraumeni syndrome(LFS)is a well-defined autosomal dominant predisposition syndrome due to TP53 germline mutation that causes many cancer malig-nancies.This early-onset syndrome poses a state of widespread malignancy.Such an inherited condition possessing defective p53,guardian of the genome,in the germline has the potential to cause multiple cancers by predominantly affecting mesenchyme(connective tissues,blood cells),breast,brain,and adrenal cortex organs.The tumors initially identified in LFS can eventually propagate to cause secondary malignancies.LFS contributes to multiple cancers in individuals with defective p53 inheritance.When suspected to possess any mass,patients with other co-morbidities,in particular those with certain cardiovascular conditions,undergo screening using high-throughput techniques like transthoracic and transesophageal echocardiography or cardiothoracic magnetic resonance imaging to locate and interpret the size of the mass.In LFS cases,it is certain to presume these masses as cancers and plan their management employing invasive surgeries after performing all efficient diagnostic tools.There are only poor predictions to rule out the chances of any other pathology.This criterion emphasizes the necessity to speculate alternative precision diagnostic methods to affirm such new growth or masses encountered in LFS cases.Moreover,it has all the possibilities to ultimately influence surgical procedures that may be invasive or complicate operative prognosis.Hence,it is essential to strategize an ideal protocol to diagnose any new unexplored mass in the LFS community.In this editorial,we discuss the importance of diagnostic approaches on naïve pristine masses in LFS.

Bridging the gap in cardiac mass diagnosis:Advanced imaging,genetic associations,and biomarkers

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.

Diagnostic Dilemma of Intracardiac Mass: Tumor versus Thrombus-Case Series and Systematic Review

Background: The differential diagnosis for intracavitary cardiac masses is limited, typically including vegetations, tumors, or thrombi. Cardiac thrombi can often mimic cardiac tumors on imaging, creating a diagnostic challenge. Primary cardiac tumors are rare and usually benign, whereas most cardiac tumors result from metastases, commonly originating from malignancies in the breast, lung, or melanoma. Aim: This report highlights the importance of distinguishing various cardiac masses based on clinical presentations, clinical courses, and radiological features. Case Presentation: We describe two cases of cardiac masses with unique and diverse clinical features. Each case posed significant diagnostic challenges due to their distinct presentations and clinical progressions. Conclusion: These cases underscore the importance of considering both benign and metastatic origins in the differential diagnosis of intracavitary cardiac masses. Accurate differentiation between thrombi and tumors is crucial for appropriate management and treatment.

Case Report: Intracardiac Mass, the Importance of Early Diagnosis and Surgical Intervention

Background: Cardiac masses are not rare findings;they can be primary or secondary. The differential diagnosis may need surgical intervention in most cases. Case summary: A 42-year female presented with complaints of dyspnea, palpitations, ventricular premature beats, attacks of non-sustained ventricular tachycardia. Echocardiography revealed a myocardial septal mass on both sides in the right and left ventricles. The decision to operate was taken and the masses were removed. It was proved by histopathologic examination to be metastatic from her skin melanoma. Clinically, arrhythmias subsided. Conclusion: The decision of surgery proved unavoidable. Early diagnosis by surgical intervention is important for effective treatment.

Tricuspid mass-curious case of Li-Fraumeni syndrome: A case report

BACKGROUND Li-Fraumeni syndrome(LFS)is a rare autosomal dominant cancer-predisposing syndrome,which can manifest as a polymorphic spectrum of malignancies.LFS is associated with an early onset in life,with the majority of cases occurring prior to the age of 46.Notwithstanding the infrequency of primary cardiac tumors,it behooves clinicians to remain vigilant in considering the differential diagnosis of such tumors in LFS patients who present with a cardiac mass.This is due to the markedly elevated risk for malignancy in this particular population,far surpassing that of the general populace.CASE SUMMARY Herein,we present a case of a 30-year-old female with LFS who was found to have a tricuspid valve leaflet mass.CONCLUSION This case exemplifies valuable learning points in the diagnostic approach for this exceptionally rare patient population.

Diagnostic challenges from conflicting results of tests and imaging

Accurate diagnosis is the foundation of clinical care but accurate diagnosis is not easily reached in some cases.In rare instances,even a sophisticated multidisciplinary team at an academic medical center cannot reliably reach an accurate diagnosis after extensive testing and imaging,and has to wait until histological diagnosis or even autopsy results are available.The underlying reason of challenging diagnoses is mostly conflicting data from history,tests,and imaging that point to different diagnoses.In this issue of World Journal of Clinical Cases,Huffaker et al reported such a challenging case of a tricuspid mass in a patient with Li-Fraumeni syndrome.The case by Huffaker et al powerfully illustrates the occasional diagnostic challenges inherent in our current diagnostic approach and the current technology.Clinicians should realize that in rare situations,agnosticism in diagnosis is unavoidable but a treatment has to be initiated so long as the principle of primum non nocere is upheld.