PDF(Pubmed)
Abstract：
Mitral valve prolapse (MVP) is a commonly occurring heart condition defined by enlargement and superior displacement of the mitral valve leaflet(s) during systole. Although commonly seen as a standalone disorder, MVP has also been described in case reports and small studies of patients with various genetic syndromes. In this review, we analyzed the prevalence of MVP within syndromes where an association to MVP has previously been reported. We further discussed the shared biological pathways that cause MVP in these syndromes, as well as how MVP in turn causes a diverse array of cardiac and noncardiac complications. We found 105 studies that identified patients with mitral valve anomalies within 18 different genetic, developmental, and connective tissue diseases. We show that some disorders previously believed to have an increased prevalence of MVP, including osteogenesis imperfecta, fragile X syndrome, Down syndrome, and Pseudoxanthoma elasticum, have few to no studies that use up-to-date diagnostic criteria for the disease and therefore may be overestimating the prevalence of MVP within the syndrome. Additionally, we highlight that in contrast to early studies describing MVP as a benign entity, the clinical course experienced by patients can be heterogeneous and may cause significant cardiovascular morbidity and mortality. Currently only surgical correction of MVP is curative, but it is reserved for severe cases in which irreversible complications of MVP may already be established; therefore, a review of clinical guidelines to allow for earlier surgical intervention may be warranted to lower cardiovascular risk in patients with MVP.
摘要：
二尖瓣脱垂（MVP）是一种常见的心脏疾病，由收缩期二尖瓣小叶的扩大和上移位定义。虽然通常被视为一种独立的疾病，在病例报告和各种遗传综合征患者的小型研究中也描述了MVP。在这次审查中,我们分析了以前曾报道过与MVP相关的综合征中MVP的患病率.我们进一步讨论了在这些综合征中导致MVP的共同生物学途径，以及MVP如何反过来导致各种心脏和非心脏并发症。我们发现了105项研究，确定了18种不同遗传类型的二尖瓣异常患者，发展,和结缔组织疾病。我们表明，一些以前认为MVP患病率增加的疾病，包括成骨不全症,脆性X综合征,唐氏综合症,和弹性假性黄瘤，很少有研究使用该疾病的最新诊断标准，因此可能高估了该综合征中MVP的患病率。此外,我们强调，与早期将MVP描述为良性实体的研究相反，患者所经历的临床过程可能是异质性的,并可能导致显著的心血管疾病发病率和死亡率.目前只有MVP的手术矫正是治愈的，但它是保留的严重病例中，MVP的不可逆并发症可能已经建立;因此，对于MVP患者,可能有必要对临床指南进行回顾以允许早期手术干预,从而降低心血管风险.
