Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disease which predisposes to ventricular arrhythmias and sudden cardiac death. Since the introduction of the first diagnostic criteria in 1994, which focused exclusively on right ventricular involvement, diagnostic guidelines have evolved significantly over the past 30 years to encompass the full complexity of the ACM phenotype. In this issue of Trends in Cardiovascular Medicine, Graziano and colleagues review the advancements in ACM diagnostics which emphasizes a comprehensive evaluation of morpho-functional, structural, electrical, and genetic characteristics. The review outlines a three-step clinical approach for diagnosing ACM that involves assessing left and/or right ventricular involvement, identifying the specific ACM subtype, and determining its underlying etiology. This highlights the importance of interdisciplinary teamwork when approaching the complexities of diagnosing ACM and managing the family at risk.
Personalized healthcare is becoming increasingly popular given the vast heterogeneity in disease manifestation between individuals. Many commonly encountered diseases within cardiology are multifactorial in nature and disease progression and response is often variable due to environmental and genetic factors influencing disease states. This makes accurate early identification and primary prevention difficult in certain populations, especially young patients with limited Atherosclerotic Cardiovascular Disease (ASCVD) risk factors. Newer strategies, such as coronary artery calcium (CAC) scans and polygenic risk scores (PRS), are being implemented to aid in the detection of subclinical disease and heritable risk, respectively. Data surrounding CAC scans have shown promising results in their ability to detect subclinical atherosclerosis and predict the risk of future coronary events, especially at the extremes; however, predictive variability exists among different patient populations, limiting the test's specificity. Furthermore, relying only on CAC scores and ASCVD risk scores may fail to identify a large group of patients needing primary prevention who lack subclinical disease and traditional risk factors, but harbor genetic variabilities strongly associated with certain cardiovascular diseases. PRS can overcome these limitations. These scores can be measured in individuals as early as birth to identify genetic variants placing them at elevated risk for developing cardiovascular disease, irrespective of their current cardiovascular health status. By applying PRS alongside CAC scores, previously overlooked patient populations can be identified and begin primary prevention strategies early to achieve optimal outcomes. In this review, we expand on the current knowledge surrounding CAC scores and PRS and highlight the future possibilities of these technologies for preventive cardiology.
Optimal guideline-directed medical therapy for heart failure with reduced ejection fraction comprises the angiotensin receptor-neprilysin inhibitor (sacubitril/valsartan), an evidence-based beta-blocker (bisoprolol, carvedilol, or sustained-release metoprolol), a mineralocorticoid antagonist (spironolactone or eplerenone), and a sodium-glucose cotransporter-2 inhibitor (dapagliflozin or empagliflozin). Optimal guideline-directed medical therapy for heart failure with preserved ejection fraction comprises a sodium-glucose cotransporter-2 inhibitor with emerging evidence to support the use of a mineralocorticoid antagonist and glucagon-like peptide-1 receptor agonists. This review will summarize the evidence behind the guideline recommendations, the impact of newer trials on management of patients with HF, and strategies for implementation into clinical practice.