Abstract：
BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by degeneration of lower motor neurons, resulting in progressive muscle weakness and atrophy. However, little is known regarding the cardiac function of children with SMA.
METHODS: We recruited SMA patients younger than 18 years of age from January 1, 2022, to April 1, 2022, in the First Affiliated Hospital of Sun Yat-sen University. All patients underwent a comprehensive cardiac evaluation before treatment, including history taking, physical examination, blood tests of cardiac biomarkers, assessment of echocardiography and electrocardiogram. Age/gender-matched healthy volunteers were recruited as controls.
RESULTS: A total of 36 SMA patients (26 with SMA type 2 and 10 with SMA type 3) and 40 controls were enrolled in the study. No patient was clinically diagnosed with heart failure. Blood tests showed elevated values of creatine kinase isoenzyme M and isoenzyme B (CK-MB) mass and high-sensitivity cardiac troponin T (hs-cTnT) in spinal muscular atrophy (SMA) patients. Regarding echocardiographic parameters, SMA children were detected with lower global left and right ventricular longitudinal strain, abnormal diastolic filling velocities of trans-mitral and trans-tricuspid flow. The results revealed no clinical heart dysfunction in SMA patients, but subclinical ventricular dysfunction was seen in SMA children including the diastolic function and myocardial performance. Some patients presented with elevated heart rate and abnormal echogenicity of aortic valve or wall. Among these SMA patients, seven patients (19.4%) had scoliosis. The Cobb\'s angles showed a significant negative correlation with LVEDd/BSA, but no correlation with other parameters, suggesting that mild scoliosis did not lead to significant cardiac dysfunction.
CONCLUSIONS: Our findings warrant increased attention to the cardiac status and highlight the need to investigate cardiac interventions in SMA children.
METHODS: We recruited SMA patients younger than 18 years of age from January 1, 2022, to April 1, 2022, in the First Affiliated Hospital of Sun Yat-sen University. All patients underwent a comprehensive cardiac evaluation before treatment, including history taking, physical examination, blood tests of cardiac biomarkers, assessment of echocardiography and electrocardiogram. Age/gender-matched healthy volunteers were recruited as controls.
RESULTS: A total of 36 SMA patients (26 with SMA type 2 and 10 with SMA type 3) and 40 controls were enrolled in the study. No patient was clinically diagnosed with heart failure. Blood tests showed elevated values of creatine kinase isoenzyme M and isoenzyme B (CK-MB) mass and high-sensitivity cardiac troponin T (hs-cTnT) in spinal muscular atrophy (SMA) patients. Regarding echocardiographic parameters, SMA children were detected with lower global left and right ventricular longitudinal strain, abnormal diastolic filling velocities of trans-mitral and trans-tricuspid flow. The results revealed no clinical heart dysfunction in SMA patients, but subclinical ventricular dysfunction was seen in SMA children including the diastolic function and myocardial performance. Some patients presented with elevated heart rate and abnormal echogenicity of aortic valve or wall. Among these SMA patients, seven patients (19.4%) had scoliosis. The Cobb\'s angles showed a significant negative correlation with LVEDd/BSA, but no correlation with other parameters, suggesting that mild scoliosis did not lead to significant cardiac dysfunction.
CONCLUSIONS: Our findings warrant increased attention to the cardiac status and highlight the need to investigate cardiac interventions in SMA children.
摘要：
背景：脊髓性肌萎缩症（SMA）是一种常染色体隐性遗传疾病，其特征是下运动神经元变性，导致进行性肌肉无力和萎缩。然而,对SMA患儿的心脏功能知之甚少。
方法：我们招募了2022年1月1日至2022年4月1日在中山大学附属第一医院就诊的年龄小于18岁的SMA患者。所有患者在治疗前均进行了全面的心脏评估,包括历史，体检,心脏生物标志物的血液测试，超声心动图和心电图的评估。招募年龄/性别匹配的健康志愿者作为对照。
结果：本研究共纳入36例SMA患者（26例SMA2型和10例SMA3型）和40例对照。没有患者被临床诊断为心力衰竭。血液检查显示，脊髓性肌萎缩症（SMA）患者的肌酸激酶同工酶M和同工酶B（CK-MB）质量和高敏心肌肌钙蛋白T（hs-cTnT）升高。关于超声心动图参数，SMA儿童检测到较低的整体左、右心室纵向应变，经二尖瓣和经三尖瓣血流的舒张期充盈速度异常。结果显示SMA患者无临床心功能不全,但亚临床心室功能障碍见于SMA患儿，包括舒张功能和心肌表现。一些患者出现心率升高和主动脉瓣或壁的回声异常。在这些SMA患者中，7例(19.4%)有脊柱侧弯.Cobb角与LVEDd/BSA呈显著负相关,但与其他参数没有相关性，提示轻度脊柱侧弯不会导致明显的心功能不全.
结论：我们的研究结果值得更多关注心脏状态，并强调需要研究SMA儿童的心脏干预措施。
方法：我们招募了2022年1月1日至2022年4月1日在中山大学附属第一医院就诊的年龄小于18岁的SMA患者。所有患者在治疗前均进行了全面的心脏评估,包括历史，体检,心脏生物标志物的血液测试，超声心动图和心电图的评估。招募年龄/性别匹配的健康志愿者作为对照。
结果：本研究共纳入36例SMA患者（26例SMA2型和10例SMA3型）和40例对照。没有患者被临床诊断为心力衰竭。血液检查显示，脊髓性肌萎缩症（SMA）患者的肌酸激酶同工酶M和同工酶B（CK-MB）质量和高敏心肌肌钙蛋白T（hs-cTnT）升高。关于超声心动图参数，SMA儿童检测到较低的整体左、右心室纵向应变，经二尖瓣和经三尖瓣血流的舒张期充盈速度异常。结果显示SMA患者无临床心功能不全,但亚临床心室功能障碍见于SMA患儿，包括舒张功能和心肌表现。一些患者出现心率升高和主动脉瓣或壁的回声异常。在这些SMA患者中，7例(19.4%)有脊柱侧弯.Cobb角与LVEDd/BSA呈显著负相关,但与其他参数没有相关性，提示轻度脊柱侧弯不会导致明显的心功能不全.
结论：我们的研究结果值得更多关注心脏状态，并强调需要研究SMA儿童的心脏干预措施。
