Department of Neurology, Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Department of Cardiology, Radboud University Medical Center, Nijmegen, the Netherlands.
Mol Genet Metab. 2022 Jul;136(3):219-225. doi: 10.1016/j.ymgme.2022.05.004. Epub 2022 May 28.
In patients with primary mitochondrial disease (MD), screening with electrocardiogram (ECG) and transthoracic echocardiography (TTE) is warranted according to current guidelines as structural cardiac abnormalities are frequent. This study aims to evaluate the cardiac phenotype of a large Dutch cohort of patients with MD and investigates whether ECG alone is sufficient for predicting structural cardiac abnormalities on TTE.
In this retrospective cohort study, genetically confirmed MD patients >18 years old with an available ECG and TTE were included. Newcastle Mitochondrial Disease Scale for Adults (NMDAS) scores were assessed. ECG's were evaluated for rhythm and conduction disorders, voltage criteria for left ventricular hypertrophy (LVH) and repolarization disorders. Echocardiographic evaluation included left and right ventricular volumes and function, and presence of LVH or concentric remodeling.
In total, 200 MD patients were included with a median age of 45 years (IQR; 37-57) of whom 36% were male. Of all MD patients, 35% had abnormalities on ECG and 61% on TTE. Most frequent structural cardiac abnormalities on TTE were: global longitudinal strain > - 18% (54%), concentric remodeling (27%) and left ventricular (LV) ejection fraction <52% (14%). Patients with maternally inherited diabetes and deafness (MIDD) and mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) had the highest prevalence of ECG abnormalities (50% and 47%). TTE abnormalities were most prevalent in patients with MIDD (75%), followed by mitochondrial myopathy (MM) (55%), MELAS (47%) and Mitochondrial Epilepsy and Ragged Red Fibers (MERRF) (47%). MD patients with a high disease severity (NMDAS ≥21) had a higher prevalence of ECG abnormalities (44%, p = 0.039) and structural cardiac abnormalities (72%, p = 0.004) compared to patients with a NMDAS score of 11-20 and ≤ 10 (ECG: 34% and 19%; TTE: 63% and 39%). ECG abnormalities had a positive predictive value of 74% and a negative predictive value of 53% for structural cardiac abnormalities on TTE.
MD patients frequently have cardiac involvement especially patients with MIDD, MELAS or high NMDAS score. ECG as sole screening parameter is insufficient to detect structural cardiac abnormalities.
根据现行指南，原发性线粒体疾病（MD）患者应进行心电图（ECG）和经胸超声心动图（TTE）筛查，因为结构心脏异常很常见。本研究旨在评估大型荷兰 MD 患者队列的心脏表型，并研究 ECG 是否足以预测 TTE 上的结构性心脏异常。
在这项回顾性队列研究中，纳入了年龄> 18 岁且有可用 ECG 和 TTE 的基因确诊 MD 患者。评估了新堡线粒体疾病成人量表（NMDAS）评分。评估了 ECG 的节律和传导障碍、左心室肥厚（LVH）的电压标准和复极障碍。超声心动图评估包括左、右心室容积和功能，以及是否存在 LVH 或向心性重构。
共纳入 200 例 MD 患者，中位年龄为 45 岁（IQR；37-57），其中 36%为男性。所有 MD 患者中，35%的心电图异常，61%的 TTE 异常。TTE 上最常见的结构性心脏异常为：整体纵向应变>-18%（54%）、向心性重构（27%）和左心室（LV）射血分数<52%（14%）。患有母系遗传性糖尿病和耳聋（MIDD）和线粒体脑肌病、乳酸酸中毒和卒中样发作（MELAS）的患者心电图异常发生率最高（50%和 47%）。MIDD 患者的 TTE 异常最为常见（75%），其次是线粒体肌病（MM）（55%）、MELAS（47%）和 MERRF（47%）。疾病严重程度较高（NMDAS≥21）的 MD 患者心电图异常（44%，p=0.039）和结构性心脏异常（72%，p=0.004）的发生率高于 NMDAS 评分为 11-20 和≤10 的患者（心电图：34%和 19%；TTE：63%和 39%）。心电图异常对 TTE 结构性心脏异常的阳性预测值为 74%，阴性预测值为 53%。
MD 患者常有心包受累，尤其是 MIDD、MELAS 或 NMDAS 评分较高的患者。ECG 作为单一筛查参数不足以发现结构性心脏异常。
