Nicolae Georgiana, Capitanescu Andrei, Leanca Madalina Cristina, Neagu Elena, Vasile Daniela, Filip Cristina, Cinteza Eliza, Aria Amelia, Pavlov Bianka Maria, Uscoiu Gabriela, Raita Cristiana Ioana, Mirea Andrada
Faculty of Midwifery and Nursing, "Carol Davila" University of Medicine and Pharmacy, 020021, Bucharest, Romania.
"Dr. Nicolae Robanescu" Children's Rehabilitation Center, 041408, Bucharest, Romania.
Life (Basel). 2025 Jul 11;15(7):1091. doi: 10.3390/life15071091.
Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder primarily affecting motor neurons. Emerging evidence suggests it also involves multiple organs, including potential cardiac manifestations. This study aimed to evaluate cardiac abnormalities in pediatric SMA patients compared to age-matched healthy controls, providing insight into underlying cardiomyopathy in this population. A total of 126 children were included in the study, with 63 SMA patients and 63 age-matched controls. We conducted clinical examinations, standard electrocardiography (ECG), and cardiac ultrasound (CUS) in all patients. Electrocardiographic analysis revealed a higher prevalence of sinus tachycardia in the SMA group and significantly deeper Q waves, indicating possible myocardial involvement. Echocardiographic findings demonstrated a significant reduction in left ventricular mass and left ventricular mass index in SMA patients compared to controls, despite normal systolic function. Statistical analysis confirmed that SMA diagnosis was an independent predictor of reduced myocardial mass, suggesting a distinct cardiac phenotype in SMA patients. This study provides new evidence of subclinical cardiac involvement in SMA, characterized by reduced myocardial mass, altered electrocardiographic parameters, and increased sinus tachycardia. These findings suggest a previously unrecognized form of cardiomyopathy in SMA that differs from cardiac manifestations typically seen in other neuromuscular disorders.
脊髓性肌萎缩症（SMA）是一种主要影响运动神经元的遗传性神经肌肉疾病。新出现的证据表明，它还涉及多个器官，包括潜在的心脏表现。本研究旨在评估与年龄匹配的健康对照相比，小儿SMA患者的心脏异常情况，以深入了解该人群潜在的心肌病。共有126名儿童纳入研究，其中63名SMA患者和63名年龄匹配的对照。我们对所有患者进行了临床检查、标准心电图（ECG）和心脏超声（CUS）检查。心电图分析显示，SMA组窦性心动过速的患病率较高，Q波明显更深，提示可能存在心肌受累。超声心动图结果显示，与对照组相比，SMA患者的左心室质量和左心室质量指数显著降低，尽管收缩功能正常。统计分析证实，SMA诊断是心肌质量降低的独立预测因素，提示SMA患者存在独特的心脏表型。本研究提供了SMA亚临床心脏受累的新证据，其特征为心肌质量降低、心电图参数改变和窦性心动过速增加。这些发现提示SMA中存在一种以前未被认识的心肌病形式，与其他神经肌肉疾病中常见的心脏表现不同。
