Marchel Michał, Madej-Pilarczyk Agnieszka, Tymińska Agata, Steckiewicz Roman, Ostrowska Ewa, Wysińska Julia, Russo Vincenzo, Grabowski Marcin, Opolski Grzegorz
1st Department of Cardiology, Medical University of Warsaw, 02-097 Warsaw, Poland.
Department of Medical Genetics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
J Clin Med. 2021 Feb 12;10(4):732. doi: 10.3390/jcm10040732.
Cardiac involvement in patients with muscular dystrophy associated with Lamin A/C mutations () is characterized by atrioventricular conduction abnormalities and life-threatening cardiac arrhythmias. Little is known about cardiac involvement in patients with emerin mutation (). The aim of our study was to describe and compare the prevalence and time distribution of cardiac arrhythmias at extended follow-up.
45 consecutive patients affected by muscular dystrophy associated to laminopathy or emerinopathy were examined. All patients underwent clinical evaluation, 12-lead surface electrocardiogram (ECG), 24 h electrocardiographic monitoring, and cardiac implanted device interrogation.
At the end of 11 (5.0-16.6) years of follow-up, 89% of the patients showed cardiac arrhythmias. The most prevalent was atrial standstill (AS) (31%), followed by atrial fibrillation/flutter (AF/Afl) (29%) and ventricular tachycardia (22%). patients presented more frequently AF/AFl compared to (50% vs. 20%, ). Half of the patients presented with AS, whilst there was no occurrence of such in the ( = 0.001). Ventricular arrhythmias were found in 60% of patients with laminopathy compared to 3% in patients with emerinopathy ( < 0.001). The age of AVB occurrence was higher in the group (32.8 +/- 10.6 vs. 25.1 +/- 9.1, = 0.03).
Atrial arrhythmias are common findings in patients with muscular dystrophy associated with / mutations; however, they occurred earlier in patients. Ventricular arrhythmias were very common (60%) in and occurred definitely earlier compared to the group.
与核纤层蛋白A/C突变（）相关的肌营养不良患者的心脏受累表现为房室传导异常和危及生命的心律失常。对于Emerin突变（）患者的心脏受累情况知之甚少。我们研究的目的是描述和比较长期随访中心律失常的患病率和时间分布。
对45例连续性受层粘连蛋白病或Emerin病相关肌营养不良影响的患者进行了检查。所有患者均接受了临床评估、12导联体表心电图（ECG）、24小时心电图监测以及心脏植入装置询问。
在11（5.0 - 16.6）年的随访结束时，89%的患者出现心律失常。最常见的是心房静止（AS）（31%），其次是心房颤动/扑动（AF/Afl）（29%）和室性心动过速（22%）。与相比，患者更频繁地出现AF/AFl（50%对20%，）。一半的患者出现AS，而患者中未出现（ = 0.001）。层粘连蛋白病患者中有60%发现室性心律失常，而Emerin病患者中为3%（ < 0.001）。房室传导阻滞发生的年龄在组中更高（32.8 +/- 10.6对25.1 +/- 9.1， = 0.03）。
心房心律失常是与/突变相关的肌营养不良患者的常见表现；然而，它们在患者中出现得更早。室性心律失常在中非常常见（60%），并且肯定比组出现得更早。
