■LAMA2相关性肌营养不良(LAMA2-MD)和SELENON相关性肌病(SELENON-RM)是两种罕见的神经肌肉疾病,其特征是近端和轴向肌无力,脊柱侧弯,脊柱僵硬,低骨质量和呼吸障碍。以前在回顾性研究和病例报告中已经描述了心脏受累,但在未选择的队列中缺乏大型病例系列和前瞻性研究.
■本研究的目的是进行患病率估计,进行心脏表型分析,并为临床护理提供建议。
■在这种情况下,包括两个时间点的系列,我们通过心电图(ECG)和经胸超声心动图(TTE)进行了全面评估.针对大量变量对ECG进行了系统评估。TTE包括左右心室射血分数(LVEF/RVEF)和左心室整体纵向应变(GLS),后者是左心室功能障碍的更早期和更敏感的标志物。
■21例LAMA2-MD(M=5;20±14岁)和10例SELENON-RM(M=7;18±12岁)患者被纳入。在大多数患者中,QRS分裂和Q波,异质性心室激活的标志物,在基线和随访时都存在。GLS异常(儿童的年龄特异性,>-18%的成年人)33%的LAMA2-MD和43%的SELENON-RM患者在基线。LVEF降低(男性<52%,女性<54%,儿科<55%)在基线时在三名LAMA2-MD患者中观察到,而在SELENON-RM患者中没有观察到。GLS和LVEF在基线和随访之间没有变化。所有患者的RVEF均正常。
■心电图异常和GLS异常在LAMA2-MD和SELENON-RM中普遍存在,然而异常LVEF仅见于LAMA2-MD患者.1名LAMA2-MD患者在1.5年的随访期间具有临床相关的LVEF恶化。我们建议在诊断时使用心电图和超声心动图对所有LAMA2-MD或SELENON-RM患者进行常规筛查,从生命的第二个十年开始,每两年最少,如果出现新的心脏体征。
UNASSIGNED: LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON-related myopathy (SELENON-RM) are two rare neuromuscular diseases characterized by proximal and axial muscle weakness, scoliosis, spinal rigidity, low bone quality and respiratory impairment. Cardiac involvement has previously been described in retrospective studies and case reports, but large case series and prospective studies in unselected cohorts are lacking.
UNASSIGNED: The objective of this study is to conduct prevalence estimations, perform cardiac phenotyping, and provide recommendations for clinical care.
UNASSIGNED: In this case series including two time points, we conducted comprehensive assessments with electrocardiography (ECG) and transthoracic echocardiography (TTE). ECGs were systematically assessed for a large subset of variables. TTE included left and right ventricular ejection fraction (LVEF/RVEF) and left ventricular global longitudinal strain (GLS), the latter being a more early and sensitive marker of left ventricular dysfunction.
UNASSIGNED: 21 LAMA2-MD (M = 5; 20±14 years) and 10 SELENON-RM patients (M = 7; 18±12 years) were included. In most patients, QRS fragmentation and Q waves, markers of heterogeneous ventricular activation, were present both at baseline and at follow-up. GLS was abnormal (age specific in children, > -18% in adults) in 33% of LAMA2-MD and 43% of SELENON-RM patients at baseline. Reduced LVEF (<52% in males, <54% in females and <55% in pediatric population) was observed in three LAMA2-MD patients at baseline and in none of the SELENON-RM patients. GLS and LVEF did not change between baseline and follow-up. RVEF was normal in all patients.
UNASSIGNED: ECG abnormalities and abnormal GLS are prevalent in LAMA2-MD and SELENON-RM, yet abnormal LVEF was only seen in LAMA2-MD patients. One LAMA2-MD patient had a clinically relevant deterioration in LVEF during 1.5-year follow-up. We advise routine screening of all patients with LAMA2-MD or SELENON-RM with ECG and echocardiography at diagnosis, minimally every two years from second decade of life and if new cardiac signs arise.