RESUMEN
This narrative review delves into the potential of artificial intelligence (AI) in predicting, stratifying risk, and personalizing treatment planning for congenital heart disease (CHD). CHD is a complex condition that affects individuals across various age groups. The review highlights the challenges in predicting risks, planning treatments, and prognosticating long-term outcomes due to CHD's multifaceted nature, limited data, ethical concerns, and individual variabilities. AI, with its ability to analyze extensive data sets, presents a promising solution. The review emphasizes the need for larger, diverse datasets, the integration of various data sources, and the analysis of longitudinal data. Prospective validation in real-world clinical settings, interpretability, and the importance of human clinical expertise are also underscored. The ethical considerations surrounding privacy, consent, bias, monitoring, and human oversight are examined. AI's implications include improved patient outcomes, cost-effectiveness, and real-time decision support. The review aims to provide a comprehensive understanding of AI's potential for revolutionizing CHD management and highlights the significance of collaboration and transparency to address challenges and limitations.
RESUMEN
Arterial tortuosity syndrome (ATS) is a rare genetic disorder characterized by abnormal twists and turns of arteries, leading to cardiovascular complications. This syndrome, first reported around 55 years ago, is inherited in an autosomal recessive manner and affects both genders. ATS manifests primarily in childhood, with arterial abnormalities disrupting blood circulation, increasing shear stress, and causing complications, such as atherosclerosis and strokes. This article reviews the genetics, etiology, pathophysiology, clinical presentation, diagnosis, associated conditions, management, and challenges of ATS. The syndrome's genetic cause is linked to mutations in the SLC2A10 gene, affecting collagen and elastin synthesis. Arterial tortuosity, a complex phenomenon, arises from factors such as vessel elongation, anatomic fixation, and vessel diameter. ATS is one of many conditions associated with arterial tortuosity, including Marfan syndrome and Loeys-Dietz syndrome. Recent studies highlight arterial tortuosity's potential as a prognostic indicator for adverse cardiovascular events. Management requires a multidisciplinary approach, and surveillance and prevention play key roles. Despite challenges, advancements in understanding ATS offer hope for targeted therapies and improved patient care.
RESUMEN
Chronic Kidney Disease (CKD) has emerged as a global healthcare challenge affecting a significant portion of the world's population. This comprehensive narrative review delves into the intricate relationship between CKD and cardiovascular disease (CVD). CKD is characterized by kidney damage persisting for at least three months, often with or without a decline in glomerular filtration rate (GFR). It is closely linked with CVD, as individuals with CKD face a high risk of cardiovascular events, making cardiovascular-associated mortality a significant concern in advanced CKD stages. The review emphasizes the importance of precise risk assessment using biomarkers, advanced imaging, and tailored medication strategies to mitigate cardiovascular risks in CKD patients. Lifestyle modifications, early intervention, and patient-centered care are crucial in managing both conditions. Challenges in awareness and recognition of CKD and the need for comprehensive interdisciplinary care are highlighted. Recent advances in research offer promising therapies, such as SGLT2 inhibitors, MRAs, GLP-1R agonists, and selective endothelin receptor antagonists. Stem cell-based therapies, gene editing, and regenerative approaches are under investigation. Patient-physician "risk discussions" and tailored risk assessments are essential for improving patient outcomes. In conclusion, the review underscores the complexity of the interconnected CKD and cardiovascular health domains. Ongoing research, innovative therapies, and personalized healthcare will be instrumental in addressing the challenges, reducing the disease burden, and enhancing well-being for individuals facing CKD and cardiovascular issues. Recognizing the intricate connections between these conditions is imperative for healthcare providers, policymakers, and researchers as they seek to improve the quality of care and outcomes for affected individuals.