RESUMO
Adults with congenital heart disease (ACHD) patients are one of the fastest growing populations in cardiology, and heart failure (HF) is the most common cause of morbidity and mortality amongst them. The need for advanced HF therapies in ACHD patients stands to grow substantially. The anatomic considerations for placing durable mechanical circulatory support (MCS) devices in ACHD patients often require specialized approaches. Despite this, increasing evidence suggests that durable MCS can be implanted safely with favorable outcomes in ACHD patients. Expansion of MCS use in ACHD patients is imperative to improve their clinical outcomes. Knowledge of ACHD-specific anatomic and physiologic considerations is crucial to HF programs' success as they work to provide care to this growing population.
RESUMO
PURPOSE OF REVIEW: Precision medicine is the concept of disease treatment and prevention using an individual's genomic profile in addition to personal and environmental factors. This review outlines examples of new biomarker strategies that enable the practice of precision cardiovascular medicine. RECENT FINDINGS: Although commonly attributed to identifying causative genetic variants, mono-genetic causes of cardiovascular diseases (CVD) are not common and largely focused on lipoprotein analyses. Nevertheless, rare clinical presentations in families with extreme phenotypes can sometimes identify novel pathways that can serve as therapeutic targets, such as the discovery of PCSK9 inhibitors for familial hypercholesterolemia or small molecular inhibitors of myosin ATPase activities for hypertrophic cardiomyopathy. Polygenetic risks scores can also identify high-risk cohorts before their clinical manifestations. Novel metabolomic insights can also lead to unexpected modulators of CVD susceptibility, such as nutrient-induced gut microbiota-derived metabolic pathways. SUMMARY: Adequate knowledge systems and data infrastructure are necessary for clinicians to take into account both genetic and environmental factors to operationalize precision medicine and to prevent CVD.