Valenti Anna Chiara, Albini Alessandro, Imberti Jacopo Francesco, Vitolo Marco, Bonini Niccolò, Lattanzi Giovanna, Schnabel Renate B, Boriani Giuseppe
Cardiology Division, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Policlinico di Modena, 41124 Modena, Italy.
Clinical and Experimental Medicine PhD Program, University of Modena and Reggio Emilia, 41124 Modena, Italy.
Biology (Basel). 2022 Mar 30;11(4):530. doi: 10.3390/biology11040530.
Cardiolaminopathies are a heterogeneous group of disorders which are due to mutations in the genes encoding for nuclear lamins or their binding proteins. The whole spectrum of cardiac manifestations encompasses atrial arrhythmias, conduction disturbances, progressive systolic dysfunction, and malignant ventricular arrhythmias. Despite the prognostic significance of cardiac involvement in this setting, the current recommendations lack strong evidence. The aim of our work was to systematically review the current data on the main cardiovascular outcomes in cardiolaminopathies. We searched PubMed/Embase for studies focusing on cardiovascular outcomes in mutation carriers (atrial arrhythmias, ventricular arrhythmias, sudden cardiac death, conduction disturbances, thromboembolic events, systolic dysfunction, heart transplantation, and all-cause and cardiovascular mortality). In total, 11 studies were included (1070 patients, mean age between 26-45 years, with follow-up periods ranging from 2.5 years up to 45 ± 12). When available, data on the -mutated population were separately reported (40 patients). The incidence rates (IR) were individually assessed for the outcomes of interest. The IR for atrial fibrillation/atrial flutter/atrial tachycardia ranged between 6.1 and 13.9 events/100 pts-year. The IR of atrial standstill ranged between 0 and 2 events/100 pts-year. The IR for malignant ventricular arrhythmias reached 10.2 events/100 pts-year and 15.6 events/100 pts-year for appropriate implantable cardioverter-defibrillator (ICD) interventions. The IR for advanced conduction disturbances ranged between 3.2 and 7.7 events/100 pts-year. The IR of thromboembolic events reached up to 8.9 events/100 pts-year. Our results strengthen the need for periodic cardiological evaluation focusing on the early recognition of atrial arrhythmias, and possibly for the choice of preventive strategies for thromboembolic events. The frequent need for cardiac pacing due to advanced conduction disturbances should be counterbalanced with the high risk of malignant ventricular arrhythmias that would justify ICD over pacemaker implantation.
心肌层病是一组异质性疾病，由编码核纤层蛋白或其结合蛋白的基因突变引起。心脏表现的整个范围包括房性心律失常、传导障碍、进行性收缩功能障碍和恶性室性心律失常。尽管在这种情况下心脏受累具有预后意义，但目前的建议缺乏有力证据。我们工作的目的是系统回顾关于心肌层病主要心血管结局的现有数据。我们在PubMed/Embase中搜索了关注突变携带者心血管结局的研究（房性心律失常、室性心律失常、心源性猝死、传导障碍、血栓栓塞事件、收缩功能障碍、心脏移植以及全因死亡率和心血管死亡率）。总共纳入了11项研究（1070例患者，平均年龄在26至45岁之间，随访期从2.5年到45±12年不等）。如有可用数据，关于突变人群的数据会单独报告（40例患者）。对感兴趣的结局分别评估发病率（IR）。房颤/房扑/房性心动过速的发病率在6.1至13.9事件/100人年之间。心房静止的发病率在0至2事件/100人年之间。恶性室性心律失常的发病率达到10.2事件/100人年，对于适当的植入式心脏复律除颤器（ICD）干预为15.6事件/100人年。晚期传导障碍的发病率在3.2至7.7事件/100人年之间。血栓栓塞事件的发病率高达8.9事件/100人年。我们的结果强化了定期进行心脏评估的必要性，重点是早期识别房性心律失常，以及可能针对血栓栓塞事件选择预防策略。由于晚期传导障碍而频繁需要心脏起搏，应与恶性室性心律失常的高风险相权衡，这将证明植入ICD优于植入起搏器。
