Sari Novi Yanti, Sia Ching-Hui, Wong Raymond Ching Chiew, Lin Weiqin, Lim Yoke Ching
Department of Cardiology, National University Heart Center Singapore, 5 Lower Kent Ridge Rd, Singapore, Singapore 119074.
Eur Heart J Case Rep. 2024 Dec 24;9(1):ytae690. doi: 10.1093/ehjcr/ytae690. eCollection 2025 Jan.
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare and progressive mitochondrial disorder characterized by multi-systemic involvement. This disease manifests in various clinical manifestations, with heart and kidney disorders being among the most common. Accurate diagnosis of MELAS often necessitates a range of complex investigations. Prompt and comprehensive management can significantly improve the prognosis of the disease.
A 40-year-old female presented with elevated blood pressure (BP) associated with shortness of breath prior to dialysis. She was found to be hypertensive with a systolic BP of 190 mmHg with prominent signs of congestion. Laboratory examination showed elevated troponin and NT-proBNP. Arterial blood gas revealed severe lactic acidosis, which prompted urgent dialysis. On the latest admission, an echocardiogram showed a left ventricular ejection fraction of 50% with much thickened myocardium compared with the previous study. Linking the past history of hearing impairment, kidney disease, giddiness, and progression of myocardial thickness warranted a genetic test, which revealed the diagnosis of MELAS.
This case involved a patient initially diagnosed with hypertensive heart disease based on asymptomatic left ventricular hypertrophy. Further deterioration led to the identification of MELAS syndrome through extensive diagnostic evaluation. This highlights the importance of considering mitochondrial diseases in unexplained cardiac symptoms, especially in younger patients, for timely and appropriate management.
线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）是一种罕见的进行性线粒体疾病，其特征为多系统受累。该疾病有多种临床表现，中心脏和肾脏疾病最为常见。准确诊断MELAS通常需要一系列复杂的检查。及时且全面的管理可显著改善疾病预后。
一名40岁女性在透析前出现血压升高（BP）并伴有呼吸急促。发现她患有高血压，收缩压为190 mmHg，有明显的充血体征。实验室检查显示肌钙蛋白和N末端脑钠肽前体（NT-proBNP）升高。动脉血气分析显示严重乳酸酸中毒，这促使进行紧急透析。在最近一次入院时，超声心动图显示左心室射血分数为50%，与之前的检查相比心肌明显增厚。结合既往听力障碍、肾脏疾病、头晕病史以及心肌厚度的进展情况，进行了基因检测，结果确诊为MELAS。
该病例涉及一名最初因无症状左心室肥厚而被诊断为高血压心脏病的患者。病情进一步恶化后，通过广泛的诊断评估确诊为MELAS综合征。这突出了在不明原因的心脏症状中，尤其是在年轻患者中考虑线粒体疾病以进行及时和适当管理的重要性。
