Weismann Constance G, Hlebowicz Joanna, Åkesson Anna, Liuba Petru, Hanseus Katarina
Department of Clinical Sciences, Lund University, Lund, Sweden.
Department of Pediatric Cardiology, Pediatric Heart Center, Skåne University Hospital, Lund, Sweden.
Front Physiol. 2022 Apr 25;13:873373. doi: 10.3389/fphys.2022.873373. eCollection 2022.
Marfan Syndrome (MFS) has been associated with increased aortic stiffness and left ventricular dysfunction. The latter may be due to the underlying genotype and/or secondary to aortic stiffening (vascular-ventricular interaction). The aim of this study was to characterize arterial and cardiac function in MFS using a multimodal approach. Prospective observational study of MFS patients and healthy controls. Methods included echocardiography, ascending aortic distensibility, common carotid intima media thickness [cIMT], parameters of wave reflection, carotid-femoral pulse wave velocity [cfPWV]), reactive hyperemia index [RHI], and biomarker analysis (Olink, CVII panel). We included 20 patients with MFS and 67 controls. Ascending aortic distensibility, cIMT and RHI were decreased, while all parameters of arterial wave reflection, stiffness and BNP levels were increased in the MFS group. Both systolic and diastolic function were impaired relative to controls. Within the MFS group, no significant correlation between arterial and cardiac function was identified. However, cfPWV correlated significantly with indexed left ventricular mass and volume in MFS. Bran natriuretic peptide (BNP) was the only biomarker significantly elevated in MFS following correction for age and sex. MFS patients have generally increased aortic stiffness, endothelial dysfunction and BNP levels while cIMT is decreased, supporting that the mechanism of general stiffening is different from acquired vascular disease. CfPWV is associated with cardiac size, blood pressure and BNP in MFS patients. These may be early markers of disease progression that are suitable for monitoring pharmacological treatment effects in MFS patients.
马凡综合征（MFS）与主动脉僵硬度增加和左心室功能障碍有关。后者可能归因于潜在的基因型和/或继发于主动脉僵硬（血管-心室相互作用）。本研究的目的是采用多模态方法对MFS患者的动脉和心脏功能进行特征描述。对MFS患者和健康对照进行前瞻性观察研究。方法包括超声心动图、升主动脉扩张性、颈总动脉内膜中层厚度[cIMT]、波反射参数、颈动脉-股动脉脉搏波速度[cfPWV]）、反应性充血指数[RHI]以及生物标志物分析（Olink，CVII面板）。我们纳入了20例MFS患者和67例对照。MFS组的升主动脉扩张性、cIMT和RHI降低，而动脉波反射、僵硬度和BNP水平的所有参数均升高。与对照组相比，收缩和舒张功能均受损。在MFS组内，未发现动脉和心脏功能之间存在显著相关性。然而，在MFS中，cfPWV与左心室质量指数和容积显著相关。脑钠肽（BNP）是MFS患者经年龄和性别校正后唯一显著升高的生物标志物。MFS患者通常主动脉僵硬度增加、内皮功能障碍和BNP水平升高，而cIMT降低，这支持了普遍僵硬的机制不同于后天性血管疾病。在MFS患者中，cfPWV与心脏大小、血压和BNP相关。这些可能是疾病进展的早期标志物，适用于监测MFS患者的药物治疗效果。
