Role of arrhythmic phenotype in prognostic stratification and management of dilated cardiomyopathy.

AIMS: Dilated cardiomyopathy (DCM) with arrhythmic phenotype combines phenotypical aspects of DCM and predisposition to ventricular arrhythmias, typical of arrhythmogenic cardiomyopathy. The definition of DCM with arrhythmic phenotype is not universally accepted, leading to uncertainty in the identification of high-risk patients. This study aimed to assess the prognostic impact of arrhythmic phenotype in risk stratification and the correlation of arrhythmic markers with high-risk arrhythmogenic gene variants in DCM patients. METHODS AND RESULTS: In this multicentre study, DCM patients with available genetic testing were analysed. The following arrhythmic markers, present at baseline or within 1 year of enrolment, were tested: unexplained syncope, rapid non-sustained ventricular tachycardia (NSVT), ≥1000 premature ventricular contractions/24 h or ≥50 ventricular couplets/24 h. LMNA, FLNC, RBM20, and desmosomal pathogenic or likely pathogenic gene variants were considered high-risk arrhythmogenic genes. The study endpoint was a composite of sudden cardiac death and major ventricular arrhythmias (SCD/MVA). We studied 742 DCM patients (45 ± 14 years, 34% female, 410 [55%] with left ventricular ejection fraction [LVEF] <35%). During a median follow-up of 6 years (interquartile range 1.6-12.1), unexplained syncope and NSVT were the only arrhythmic markers associated with SCD/MVA, and the combination of the two markers carried a significant additive risk of SCD/MVA, incremental to LVEF and New York Heart Association class. The probability of identifying an arrhythmogenic genotype rose from 8% to 30% if both early syncope and NSVT were present. CONCLUSION: In DCM patients, the combination of early detected NSVT and unexplained syncope increases the risk of life-threatening arrhythmic outcomes and can aid the identification of carriers of malignant arrhythmogenic genotypes.

Clinical Response to Tumor Necrosis Factor-α Inhibitor Therapy in the Management of Cardiac Sarcoidosis.

Evidence that tumor necrosis factor-α (TNF-α) inhibitors may benefit patients with cardiac sarcoidosis (CS) is limited to small case series and both imaging and clinical outcomes in this population are not well known. This study aimed to evaluate the disease course of patients with CS treated with either infliximab or adalimumab therapy based on serial 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) imaging and clinical outcomes. An institutional CS research database was queried for patients treated with TNF-α inhibitors between 2016 and 2021. Outcomes included (1) change in mean prednisone dose, (2) FDG-PET improvement, and (3) unplanned hospitalizations, advanced heart failure therapies, or death. Our query yielded 31 patients with CS. A total of 13 patients were on infliximab, 15 patients were on adalimumab, and 3 patients were on adalimumab before transitioning to infliximab. Mean prednisone dose decreased between FDG-PET immediately preceding TNF-α and second after TNF-α FDG-PET (18.6 ± 15.7 mg to 7.7 ± 12.4 mg, p = 0.018). A significant decrease was seen in the mean number of segments demonstrating FDG uptake between most recent pre-TNF-α and first after TNF-α inhibitor FDG-PET (mean segments = 4.2 vs 3.1, p = 0.048). Between earliest pre-TNF-α and first after TNF-α FDG-PET there was a numerical decrease in average myocardial maximum standard uptake values (SUVmax) (4.4 vs 3.1, p = 0.18), and the ratio of SUVmax myocardium:SUVmax blood pool (1.9 vs 1.5, p = 0.26). Within 36 months of initiating TNF-α inhibitor, 4 patients (13%) experienced unplanned cardiovascular hospitalization (median time to hospitalization = 12.1 months). In conclusion, in patients with CS, TNF-α inhibitor therapy is associated with decreased glucocorticoid use, numerical decrease in cardiac FDG uptake, and minimal cardiac morbidity.

Sex differences in natural history of cardiovascular magnetic resonance- and biopsy-proven lymphocytic myocarditis.

AIMS: The role of sex in determining the profile and the outcomes of patients with myocarditis is largely unexplored. We evaluated the impact of sex as a modifier factor in the clinical characterization and natural history of patients with definite diagnosis of myocarditis. METHODS AND RESULTS: We retrospectively analysed a single-centre cohort of consecutive patients with definite diagnosis of myocarditis (i.e. endomyocardial biopsy or cardiac magnetic resonance proven). Specific sub-analyses were performed in cohorts of patients with chest pain, ventricular arrhythmias, and heart failure as different main symptoms at presentation. The primary outcome measure was a composite of all-cause mortality or heart transplantation (HTx). We included 312 patients, of which 211, 68% of the whole population, were males. Despite no clinically relevant differences found at baseline presentation, males had a higher indexed left ventricular end-diastolic volume (62 ± 23 mL/m2 vs. 52 ± 20 mL/m2, P = 0.011 in males vs. females, respectively) at follow-up evaluation. At a median follow-up of 72 months, 36 (17%) males vs. 8 (8%) females experienced death or HTx (P = 0.033). Male sex emerged as predictors of all-cause mortality or HTx in every combination of covariates (HR 2.600; 1.163-5.809; P = 0.020). Results were agreeable regardless of the main symptom of presentation. CONCLUSIONS: In a large cohort of patients with definite diagnosis of myocarditis, females experienced a more favourable long-term prognosis than males, despite a similar clinical profile at presentation.

Cardiac Tumors: Diagnosis, Prognosis, and Treatment.

PURPOSE OF REVIEW: Cardiac masses frequently present significant diagnostic and therapeutic clinical challenges and encompass a broad set of lesions that can be either neoplastic or non-neoplastic. We sought to provide an overview of cardiac tumors using a cardiac chamber prevalence approach and providing epidemiology, imaging, histopathology, diagnostic workup, treatment, and prognoses of cardiac tumors. RECENT FINDINGS: Cardiac tumors are rare but remain an important component of cardio-oncology practice. Over the past decade, the advances in imaging techniques have enabled a noninvasive diagnosis in many cases. Indeed, imaging modalities such as cardiac magnetic resonance, computed tomography, and positron emission tomography are important tools for diagnosing and characterizing the lesions. Although an epidemiological and multimodality imaging approach is useful, the definite diagnosis requires histologic examination in challenging scenarios, and histopathological characterization remains the diagnostic gold standard. A comprehensive clinical and multimodality imaging evaluation of cardiac tumors is fundamental to obtain a proper differential diagnosis, but histopathology is necessary to reach the final diagnosis and subsequent clinical management.

Atrial thrombi or cardiac tumours? The image-challenge of intracardiac masses: a case report.

BACKGROUND: Cardiac masses (CM) encompass a broad set of lesions that can be either neoplastic or non-neoplastic. A stepwise diagnostic strategy through multimodality imaging evaluation is the cornerstone for the appropriate approach. CASE SUMMARY: We report the case of an 83-year-old man presenting at the emergency department for acute heart failure showing bilateral atrial masses without unequivocal aetiological aspects at several imaging techniques, emphasizing the critical aspects in the differential diagnosis. DISCUSSION: In the complex field of CM, a proper differential diagnosis is very important in order to start the appropriate treatment; however, sometimes it could be challenging despite a multimodality imaging approach, therefore still requiring histologic examination.