1 型肌强直性营养不良患者的常规超声心动图检查。
Routine echocardiography in patients with myotonic dystrophy type 1.
机构信息
General Hospital Djordje Joanovic, Zrenjanin, Serbia.
Neurology Clinic, Clinical Center of Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia.
出版信息
J Chin Med Assoc. 2017 Jul;80(7):408-412. doi: 10.1016/j.jcma.2017.04.004. Epub 2017 Jun 7.
BACKGROUND
Myotonic dystrophy type 1 (DM1) is an autosomal-dominant disease. One third of DM1 patients die suddenly, most of them due to the heart conduction abnormalities and arrhythmias. The aim of this study was to analyze echocardiographic findings in a large cohort of DM1 patients.
METHODS
This retrospective study comprised 111 patients and 71 healthy controls (HCs) matched for gender and age.
RESULTS
Mitral valve (MV) prolapse was observed in 23% of our DM1 patients vs. 8.5% of HCs (p < 0.05). Left ventricle (LV) systolic dysfunction was observed in 6% of patients and none of the HCs (p < 0.05). Frequency of diastolic dysfunction showed no significant difference between DM1 patients and HCs (8.1% vs. 15.5%, p > 0.05). Systolic dysfunction was more common in patients with severe electrocardiographic (ECG) abnormality (18.8% vs. 2.7%, p < 0.01).
CONCLUSION
One fourth of DM1 patients have MV prolapse. Approximately 15% of DM1 patients have systolic or diastolic LV dysfunction. These patients should have benefit from medical therapy. Furthermore, it seems that treatment of conduction defects might prevent development of the heart failure (HF).
背景
肌强直性营养不良 1 型（DM1）是一种常染色体显性遗传病。三分之一的 DM1 患者会突然死亡，其中大多数是由于心脏传导异常和心律失常所致。本研究旨在分析大量 DM1 患者的超声心动图表现。
方法
本回顾性研究纳入了 111 名患者和 71 名性别和年龄匹配的健康对照者（HCs）。
结果
我们的 DM1 患者中有 23%存在二尖瓣脱垂，而 HCs 中为 8.5%（p<0.05）。6%的患者存在左心室收缩功能障碍，而 HCs 中无一例（p<0.05）。DM1 患者与 HCs 之间舒张功能障碍的发生率无显著差异（8.1% vs. 15.5%，p>0.05）。心电图（ECG）异常严重的患者更常出现收缩功能障碍（18.8% vs. 2.7%，p<0.01）。
结论
四分之一的 DM1 患者存在二尖瓣脱垂。大约 15%的 DM1 患者存在左心室收缩或舒张功能障碍。这些患者应该从药物治疗中获益。此外，似乎治疗传导缺陷可能会预防心力衰竭（HF）的发生。
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