目的:先天性全身性脂肪营养不良(CGL)是一种罕见的常染色体隐性遗传疾病,其特征是缺乏功能性脂肪细胞导致异位脂质储存,代谢紊乱和早期心血管疾病。二维斑点追踪(2D-STE)可以检测心肌功能的早期异常。我们旨在使用2D-STE评估大量CGL患者的心肌变形。
方法:对22名CGL患者和22名健康受试者进行横断面研究,性别和年龄相匹配,于2013年至2018年进行。所有参与者均接受了标准常规超声心动图(ECHO)和2D-STE。血糖测定,脂质,胰岛素,所有CGL患者均接受瘦素治疗。
结果:在CGL组中,平均年龄为14.6±10.7岁,其中68.2%(n=15)小于18岁。所有的病人都有低瘦素血症,95.4%(21/22)低HDL-c,86.4%(19/22)高甘油三酯血症,68.2%(15/22)糖尿病,50%(11/22)肝性脂肪变性,41%(9/22)胰岛素抵抗,41%(9/22)高胆固醇血症,18.2%(4/22)高血压。ECHO显示36.6%(8/22)的CGL患者出现舒张功能障碍,31.8%(7/22)左心室肥厚(LVH),27.3%(6/22)增加左心房容积指数(LAVI),和18.2%(4/22)增加左心室收缩直径(LVDS)但正常射血分数(EF),是否使用2D-STE,68.2%(15/22)的CGL患者出现整体纵向应变(GLS)异常(p<0.01),几乎在LV段。GLS异常与A1c呈正相关(r=0.57,p=0.005),葡萄糖(r=0.5,p=0.018)和基础胰岛素(r=0.69,p=0.024),在这些患者中发现与瘦素呈负相关(r=-0.51,p=0.005)。
结论:2D-STE通过ECHO显示收缩功能正常的年轻CGL人群的左心室收缩功能早熟。早期暴露于常见的代谢异常,如胰岛素抵抗,高血糖症,低瘦素血症必须参与这些患者的心肌损害。
OBJECTIVE: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by the absence of functional adipocytes resulting in ectopic lipid storage, metabolic disorders and early cardiovascular disease. Two-dimensional speckle-tracking (2D-STE) allows the detection of early abnormalities in myocardial function. We aimed to evaluate myocardial deformation in a large sample of CGL patients using 2D-STE.
METHODS: A cross-sectional study of 22 patients with CGL and 22 healthy subjects, matched for sex and age, was conducted from 2013 to 2018. All participants had undergone standard conventional echocardiography (ECHO) and 2D-STE. Determination of blood glucose, lipids, insulin, and leptin were performed in all CGL patients.
RESULTS: In the CGL group the mean age was 14.6±10.7 years where 68.2% (n=15) were younger than 18 years old. All the patients had hypoleptinemia, 95.4% (21/22) low HDL-c, 86.4% (19/22) hypertriglyceridemia, 68.2% (15/22) diabetes, 50% (11/22) hepatic steatosis, 41% (9/22) insulin resistance, 41% (9/22) hypercholesterolemia, and 18.2% (4/22) hypertension. ECHO showed that 36.6% (8/22) of CGL patients presented diastolic dysfunction, 31.8% (7/22) left ventricular hypertrophy (LVH), 27.3% (6/22) increased left atrial volume index (LAVI), and 18.2% (4/22) increased left ventricular systolic diameter (LVDS) but normal ejection fraction (EF), whether using 2D-STE, 68.2% (15/22) of CGL patients showed abnormal global longitudinal strain (GLS) (p<0.01), and in almost LV segments. Positive association between abnormal GLS and A1c (r=0.57, p=0.005), glucose (r=0.5, p=0.018) and basal insulin (r= 0.69, p= 0.024), and negative association with leptin (r = -0.51, p = 0.005) were found in these patients.
CONCLUSIONS: The 2D-STE revealed precocious left ventricular systolic dysfunction in a young CGL population with normal systolic function by ECHO. Early exposure to common metabolic abnormalities as insulin resistance, hyperglycemia, and hypoleptinemia must be involved in myocardial damage in these patients.