Del Franco Annamaria, Menale Silvia, Chiti Chiara, Biagioni Giulia, Tomberli Alessia, Zampieri Mattia, Olivotto Iacopo
Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy.
Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy.
Prog Cardiovasc Dis. 2023 Sep-Oct;80:8-13. doi: 10.1016/j.pcad.2023.08.002. Epub 2023 Aug 10.
Recent evidence from imaging and genetic screening studies has clearly shown that hypertrophic cardiomyopathy (HCM) is more common than initially perceived, emphasizing the need to reassess its associated clinical and social burden. While clinical and academic efforts have long been focused on stratification of arrhythmic risk and management of intraventricular obstruction, progression of cardiac dysfunction and heart failure-related complications have emerged as most relevant from the epidemiological standpoint, delineating a major unmet need. Furthermore, a broader perspective of our patients' needs has become central in the care of individuals with HCM, addressing issues that are not strictly clinical but equally important to their wellbeing, such as quality of life, athletic participation, lifestyle and reproductive choices and psychological adaptation to a chronic condition often detected at a young age. The appropriate evaluation and objective assessment of disease burden associated with HCM are increasingly relevant not only to management but also to trial design and evaluation of the efficacy of emerging, targeted treatments. In this review, we discuss the evolving perception of HCM prevalence and natural history, as well as recent acquisitions regarding its true, often under-appreciated socio-economic and clinical burden.
来自影像学和基因筛查研究的最新证据清楚地表明,肥厚型心肌病(HCM)比最初认为的更为常见,这凸显了重新评估其相关临床和社会负担的必要性。长期以来,临床和学术工作一直集中在心律失常风险分层和心室梗阻的管理上,但从流行病学角度来看,心脏功能障碍的进展和心力衰竭相关并发症已成为最关键的问题,这表明存在重大的未满足需求。此外,对患者需求的更广泛视角已成为HCM患者护理的核心,要解决一些并非严格临床但对其幸福感同样重要的问题,如生活质量、运动参与、生活方式和生育选择,以及对这种常在年轻时被发现的慢性病的心理适应。对与HCM相关的疾病负担进行适当评估和客观评价,不仅对管理越来越重要,而且对试验设计以及新兴靶向治疗疗效的评估也越来越重要。在本综述中,我们讨论了对HCM患病率和自然史的不断演变的认识,以及有关其真实的、常常未得到充分认识的社会经济和临床负担的最新研究成果。