Cardiology Department, AP-HP, Cochin Hospital, 27 rue du Faubourg Saint Jacques, 75679 Paris Cedex 14, France Université Paris Descartes-Sorbonne Paris Cité, Paris, France AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, 75651 Paris Cedex 13, France INSERM, UMRS 974, Paris 75013, France
Université Paris Descartes-Sorbonne Paris Cité, Paris, France INSERM Unit 970, Paris Cardiovascular Research Centre (PARCC), Paris, France Medical Intensive Care Unit, AP-HP, Cochin Hospital, Paris Cedex 14, France.
Eur Heart J. 2015 Nov 7;36(42):2886-93. doi: 10.1093/eurheartj/ehv307. Epub 2015 Jul 29.
The aim of this study is to assess the long-term cardiac prognosis of adults with mitochondrial diseases.
Between January 2000 and May 2014, we retrospectively included in this study 260 consecutive patients (60% women) ≥18 years (interquartile range 31-54), with genetically proven mitochondrial diseases, including 109 with mitochondrial DNA (mtDNA) single large-scale deletions, 64 with the m.3243A>G mutation in MT-TL1, 51 with other mtDNA point mutations, and 36 patients with nuclear gene mutations. Cardiac involvement was present at baseline in 81 patients (30%). Single and multiple variable analyses were performed in search of predictors of major adverse cardiac events (MACEs), and hazard ratios (HRs) and 95% confidence intervals (CI) were calculated. Over a median follow-up of 7 years (3.6-11.7), 27 patients (10%) suffered a MACE, defined as sudden death, death due to heart failure (HF), resuscitated cardiac arrest, third-degree atrioventricular block, sinus node dysfunction, cardiac transplantation, or hospitalization for management of HF. Patients with single large-scale mtDNA deletions or m.3243A>G mutations had the highest incidence of MACE. By multiple variable analysis, intraventricular conduction block (HR = 16.9; 95% CI: 7.2-39.4), diabetes (HR = 7.0; 95% CI: 2.9-16.7), premature ventricular complexes (HR = 3.6; 95% CI: 1.4-9.2), and left ventricular (LV) hypertrophy (HR = 2.5; 95% CI: 1.1-5.8) were independent predictors of MACEs. In patients with zero, one, and two or more risk factors, the incidences of MACE were 1.7, 15 and 42%, respectively.
Patients with mitochondrial diseases are at high risk of MACE, independently predicted by intraventricular conduction block, diabetes, ventricular prematurity, and LV hypertrophy.
本研究旨在评估成人线粒体疾病的长期心脏预后。
在 2000 年 1 月至 2014 年 5 月期间，我们回顾性纳入了 260 例连续患者（60%为女性），年龄≥18 岁（四分位间距 31-54 岁），基因证实患有线粒体疾病，包括 109 例线粒体 DNA（mtDNA）大片段缺失、64 例 MT-TL1 m.3243A>G 突变、51 例其他 mtDNA 点突变和 36 例核基因突变。81 例患者（30%）在基线时存在心脏受累。进行单变量和多变量分析以寻找主要不良心脏事件（MACE）的预测因素，并计算危险比（HR）和 95%置信区间（CI）。中位随访 7 年（3.6-11.7 年）后，27 例患者（10%）发生 MACE，定义为猝死、心力衰竭（HF）死亡、复苏性心脏骤停、三度房室传导阻滞、窦房结功能障碍、心脏移植或因 HF 管理而住院。患有单个大片段 mtDNA 缺失或 m.3243A>G 突变的患者 MACE 发生率最高。多变量分析显示，室内传导阻滞（HR=16.9；95%CI：7.2-39.4）、糖尿病（HR=7.0；95%CI：2.9-16.7）、室性期前收缩（HR=3.6；95%CI：1.4-9.2）和左心室（LV）肥厚（HR=2.5；95%CI：1.1-5.8）是 MACE 的独立预测因素。在零、一和两个或更多危险因素的患者中，MACE 的发生率分别为 1.7%、15%和 42%。
患有线粒体疾病的患者发生 MACE 的风险很高，独立预测因素为室内传导阻滞、糖尿病、室性早搏和 LV 肥厚。
