PDF(Pubmed)
Abstract：
Hypertrophic cardiomyopathy (HCM) is a hereditary cardiac condition characterized by unexplained left ventricular hypertrophy without a hemodynamic cause. This condition is prevalent in the United States, resulting in various clinical manifestations, including diastolic dysfunction, left ventricular outflow obstruction, cardiac ischemia, and atrial fibrillation. HCM is associated with several genetic mutations, with sarcomeric mutations being the most common and contributing to a more complex disease course. Early diagnosis of HCM is essential for effective management, as late diagnosis often requires invasive treatments and creates a substantial financial burden. Disparities in HCM diagnosis and treatment exist between high-income and low-income countries. High-income countries have more resources to investigate and implement advanced diagnostic and treatment modalities. In contrast, low-income countries face challenges in accessing diagnostic equipment, trained personnel, and affordable medications, leading to a lower quality of life and life expectancy for affected individuals. Diagnostic tools for HCM include imaging studies such as 2D echocardiography, cardiovascular magnetic resonance (CMR), and electrocardiograms (ECGs). CMR is considered the gold standard but remains inaccessible to a significant portion of the world\'s population, especially in low-income countries. Genetics plays a crucial role in HCM, with numerous mutations identified in various genes. Genetic counseling is essential but often limited in low-income countries due to resource constraints. Disparities in healthcare access and adherence to treatment recommendations exist between high-income and low-income countries, leading to differences in patient outcomes. Addressing these disparities is essential to improve the overall management of HCM on a global scale. In conclusion, this review highlights the complex nature of HCM, emphasizing the importance of early diagnosis, genetic counseling, and access to appropriate diagnostic and therapeutic interventions. Addressing healthcare disparities is crucial to ensure that all individuals with HCM receive timely and effective care, regardless of their geographic location or socioeconomic status.
摘要：
肥厚型心肌病（HCM）是一种遗传性心脏病，其特征是无法解释的左心室肥大，没有血液动力学原因。这种情况在美国很普遍，导致各种临床表现，包括舒张功能障碍,左心室流出道梗阻,心肌缺血,和心房颤动。HCM与几种基因突变有关,肌节突变是最常见的，并导致更复杂的疾病过程。HCM的早期诊断对于有效管理至关重要。因为晚期诊断通常需要侵入性治疗，并造成巨大的经济负担。高收入国家和低收入国家之间在HCM诊断和治疗方面存在差异。高收入国家有更多的资源来调查和实施先进的诊断和治疗模式。相比之下,低收入国家在获取诊断设备方面面临挑战，训练有素的人员，和负担得起的药物，导致受影响个体的生活质量和预期寿命较低。HCM的诊断工具包括成像研究，如2D超声心动图，心血管磁共振（CMR），心电图（ECG）。CMR被认为是黄金标准，但世界上很大一部分人口仍然无法获得，特别是在低收入国家。遗传学在HCM中起着至关重要的作用，在各种基因中发现了许多突变。遗传咨询是必不可少的，但由于资源限制，在低收入国家往往受到限制。高收入国家和低收入国家在获得医疗保健和遵守治疗建议方面存在差异，导致患者预后的差异。解决这些差异对于在全球范围内改善HCM的整体管理至关重要。总之,这篇综述强调了HCM的复杂性，强调早期诊断的重要性，遗传咨询,以及获得适当的诊断和治疗干预措施。解决医疗保健差异对于确保所有患有HCM的个人获得及时有效的护理至关重要。无论他们的地理位置或社会经济地位。
