Ricci, Fabrizio

Abstract Arrhythmogenic cardiomyopathy (ACM) is addressed in international guidelines and expert consensus statements. To assist clinicians in their routine practice and support decision-making, we performed a systematic review of the most relevant guidelines and recommendations for ACM diagnosis and management. Our search, covering MEDLINE, EMBASE, and resources from scientific societies over the last 10 years, identified two guidelines and three consensus statements that met rigorous inclusion criteria for detailed analysis. In the examined documents, key areas of agreement included the critical role of cardiac imaging for initial diagnosis and ongoing monitoring, genetic testing in index patients, ventricular arrhythmia management, catheter ablation indications, heart failure treatment strategies, and exercise recommendations. However, significant differences were found in definitions and diagnostic criteria for ACM, interpretation of phenocopies, management of family members, and criteria for implantable cardioverter defibrillator implantation. Additional discrepancies emerged regarding the role of multidisciplinary teams, non-cardiac surgical considerations, atrial fibrillation management, and reproductive issues. Crucially, there remain considerable gaps in evidence, especially in areas such as the management and follow-up of patients with potential or borderline ACM diagnoses, as well as the care of their relatives. The clinical implications of genetic findings, along with the clinical management of left-dominant, biventricular phenotypes, and hot phases of disease, are also insufficiently addressed. Furthermore, a critical shortfall is the lack of externally validated risk assessment tools to guide clinical decision-making. Bridging these gaps could help guiding future research and guideline development towards improving patient outcomes.

Abstract Aims In light of recent advances in imaging techniques, molecular understanding and therapeutic options in hypertrophic cardiomyopathy (HCM), we performed a systematic review of current guidelines for the diagnosis and management of HCM in order to identify consensus and discrepant areas in the clinical practice guidelines. Methods and results We systematically reviewed the English language guidelines and recommendations for the management of HCM in adults. MEDLINE and EMBASE databases were searched for guidelines published in the last 10 years. Following a systematic search, three guidelines on the diagnosis and management of HCM were identified, all of which were robustly developed (AGREE rigour of development score ≥50%). These guidelines were authored by the major European (European Society of Cardiology; 2023), American (American Heart Association /American College of Cardiology/American Medical Society for Sports Medicine /Heart Rhythm Society/Pediatric and Congenital Electrophysiology Society/Society for Cardiovascular Magnetic Resonance; 2024), and Japanese [Japanese Circulation Society (JCS)/Japanese Heart Failure Society (JHFS); 2018] cardiovascular societies. There was broad consensus on echocardiographic recommendations, the medical and invasive management of HCM, the application of genetic testing and family screening, and exercise and reproductive recommendations in HCM. There were areas of variability in the definition and diagnostic criteria for HCM, cardiovascular magnetic resonance imaging recommendations, and assessment of sudden cardiac death (SCD) risk and prevention strategies. Due to the JCS/JHFS guidelines being older, there are no recommendations on the use of cardiac myosin ATPase inhibitors. Conclusion Contemporary guidelines for HCM achieve consensus across a broad range of criteria and recommendations concerning diagnosis and management. However, variations in the approach towards risk assessment for SCD exist between the guidelines. There are also more subtle differences concerning diagnostic criteria and the utility of late gadolinium enhancement for risk stratification, which will likely evolve as the evidence-base broadens.

Abstract Multiple guidelines exist for the diagnosis and management of heart failure with preserved ejection fraction (HFpEF). We systematically reviewed current guidelines and recommendations, developed by national and international medical organizations, on the management of HFpEF in adults to aid clinical decision-making. We searched MEDLINE and EMBASE on 28 February 2024 for publications over the last 10 years as well as websites of organizations relevant to guideline development. Of the 10 guidelines and recommendations retrieved, 7 showed considerable rigour of development and were subsequently retained for analysis. There was consensus on the definition of HFpEF and the diagnostic role of serum natriuretic peptides and resting transthoracic echocardiography. Discrepancies were identified in the thresholds of serum natriuretic peptides and transthoracic echocardiography parameters used to diagnose HFpEF. There was agreement on the general pharmacological and supportive management of acute and chronic HFpEF. However, differences exist in strategies to identify and address specific phenotypes. Contemporary guidelines for HFpEF management agree on measures to avoid its development and the consideration of cardiac transplantation in advanced diseases. There were discrepancies in recommended frequency of surveillance for patients with HFpEF and sparse recommendations on screening for HFpEF in the general population, use of diagnostic scoring systems, and the role of newly emerging therapies.