Pediatric Cardiovascular Research Center, Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran.
Metabolic Liver Diseases Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
Int J Cardiovasc Imaging. 2024 Jan;40(1):73-78. doi: 10.1007/s10554-023-02983-y. Epub 2023 Oct 17.
Mucopolysaccharidoses (MPS) are a group of rare genetic diseases and heart involvement is one of the important conflicts in most types, which may cause serious complications. We used M-Mode and two-dimensional speckle tracking echocardiography (2D-STE) to explore cardiovascular involvements in MPS patients.
The present cross-sectional study investigated the frequency of cardiac involvements in MPS patients. Included participants were MPS types I, II, III, IV, and VI who underwent specialized echocardiography exams to assess valvular function, systolic and diastolic function, left ventricular ejection fraction (LVEF), and global longitudinal strain (GLS).
35 patients were enrolled in this study. The total mean age of patients was 9.58 ± 5.11 years and 71.4% were male. Type IV (40%) and type III (31.4%) were the most frequent MPS. Although LVEF did not differ notably among MPS types, GLS was significantly different (p = 0.029). Mitral regurgitation was observed remarkably more in MPS type III (p = 0.001) while mitral stenosis was more common in type III (p = 0.007). There was a significant association between LVEF and GLS (β= -0.662; p = 0.025) and between LVEF and MPS type (β = 1.82; p = 0.025) when adjusted for GLS.
Cardiac complications are very common and are one of the most important causes of death in MPS patients. 2D-STE seems to be superior to M-Mode for detection of early and subclinical cardiac dysfunction in MPS patients.
黏多糖贮积症（MPS）是一组罕见的遗传性疾病，大多数类型的疾病都会累及心脏，这可能导致严重的并发症。我们使用 M 型和二维斑点追踪超声心动图（2D-STE）来探讨 MPS 患者的心血管受累情况。
本横断面研究调查了 MPS 患者心脏受累的频率。纳入的参与者为接受专门的超声心动图检查以评估瓣膜功能、收缩和舒张功能、左心室射血分数（LVEF）和整体纵向应变（GLS）的 MPS Ⅰ型、Ⅱ型、Ⅲ型、Ⅳ型和Ⅵ型患者。
本研究共纳入 35 名患者。患者的总平均年龄为 9.58±5.11 岁，71.4%为男性。Ⅳ型（40%）和Ⅲ型（31.4%）是最常见的 MPS 类型。尽管 LVEF 在 MPS 类型之间没有显著差异，但 GLS 有显著差异（p=0.029）。二尖瓣反流在 MPS Ⅲ型中更为显著（p=0.001），而二尖瓣狭窄在 MPS Ⅲ型中更为常见（p=0.007）。当调整 GLS 后，LVEF 与 GLS 之间（β=-0.662；p=0.025）和 LVEF 与 MPS 类型之间（β=1.82；p=0.025）存在显著相关性。
心脏并发症非常常见，是 MPS 患者死亡的最重要原因之一。2D-STE 似乎优于 M 型超声心动图，可用于检测 MPS 患者的早期和亚临床心脏功能障碍。
