脊髓性肌萎缩症患儿心功能评估：病例对照研究。

Department of Pediatric Cardiology, Heart Center, The First Affiliated Hospital of Sun Yat-sen University, and NHC Key Laboratory of Assisted Circulation and Vascular Diseases (Sun Yat-sen University), Guangzhou, China.

Department of PICU, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.

Pediatr Int. 2024 Jan-Dec;66(1):e15769. doi: 10.1111/ped.15769.

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.

背景

脊髓性肌萎缩症（SMA）是一种常染色体隐性遗传病，其特征是下运动神经元退化，导致进行性肌肉无力和萎缩。然而，对于 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 日期间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，包括病史采集、体格检查、心脏生物标志物的血液检查、超声心动图和心电图评估。年龄/性别匹配的健康志愿者被招募为对照组。

结果

共纳入 36 例 SMA 患者（26 例 SMA 2 型，10 例 SMA 3 型）和 40 例对照组。无患者临床诊断为心力衰竭。血液检查显示 SMA 患者肌酸激酶同工酶 M 和同工酶 B（CK-MB）质量和高敏心肌肌钙蛋白 T（hs-cTnT）升高。在超声心动图参数方面，SMA 患儿的左、右心室整体纵向应变均较低，二尖瓣和三尖瓣跨瓣血流舒张充盈速度异常。结果显示 SMA 患者无临床心脏功能障碍，但可见亚临床心室功能障碍，包括舒张功能和心肌功能障碍。部分患者心率升高，主动脉瓣或瓣环回声增强。在这些 SMA 患者中，有 7 例（19.4%）存在脊柱侧凸。Cobb 角与 LVEDd/BSA 呈显著负相关，但与其他参数无相关性，提示轻度脊柱侧凸不会导致明显的心脏功能障碍。