PROGRESSION OF CARDIAC DISEASE IN EMERY-DREIFUSS MUSCULAR-DYSTROPHY
PROGRESSION OF CARDIAC DISEASE IN EMERY-DREIFUSS MUSCULAR-DYSTROPHY
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DOI：
10.1002/clc.4960140509
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发表时间：
1991-05-01
影响因子：
2.7
通讯作者：
KELLY, TE
中科院分区：
文献类型：
--
作者：
BIALER, MG;MCDANIEL, NL;KELLY, TE
Emery-Dreifuss肌营养不良症（EDMD）是一种罕见的X连锁肌营养不良症，其特征是早期挛缩，进行性肌无力和房性心律失常。 最近的报告表明，受影响的男性可能有其他心脏问题，携带者女性也可能显示心电图异常。 我们重新研究了两个大家庭的EDMD，以确定这些问题的程度。 我们检查了10名受影响的男性，并采访了另外2人。 3例20岁以下的受累男性无ECG变化。 所有受影响的男性35岁或以上的心律失常。 其中一名患者在睡眠时出现更严重的心律失常，表明连续24小时ECG监测在评估EDMD男性患者中的有用性。 2例需要植入起搏器，4例已植入起搏器，另外4例植入起搏器的受影响男性在本研究之前死亡。 一名受影响的男子与起搏器发展心室二联律和另一发展充血性心力衰竭。 因此，在10名植入起搏器的受影响男性中，6名出现额外的心脏症状，4名死亡。 患有EDMD的男性患者使用心室起搏器可能会存活更长时间，但这可能会增加他们患心肌病和室性心律失常的可能性。 在检查的34名女性携带者中，有6名患有典型的EDMD心律失常。 两个人需要心脏起搏器。 心律失常的风险随着年龄的增长而增加。 从一个家庭的结果应谨慎外推到另一个，因为似乎有显着的家族间变异。 我们建议对EDMD患者进行仔细的心脏病学随访，对老年携带者女性进行定期的心脏评估。
Emery-Dreifuss muscular dystrophy (EDMD) is a rare X-linked muscular dystrophy characterized by early contractures, progressive muscle weakness, and atrial arrhythmias. Recent reports suggest that there may be additional cardiac problems in affected males and that carrier females may also show ECG abnormalities. We restudied two large families with EDMD in order to determine the extent of these problems. We examined 10 affected males and interviewed 2 others. The 3 affected males less than 20 years old had no ECG changes. All affected men of 35 years or older had arrhythmias. One had more severe arrhythmias when asleep, indicating the usefulness of continuous 24-h ECG monitoring in the evaluation of males affected with EDMD. Two required pacemakers, 4 had already had a pacemaker placed, and 4 other affected men with pacemakers had died prior to this study. One affected man with a pacemaker developed ventricular bigeminy and another developed congestive heart failure. Thus of 10 affected males with pacemakers, 6 had additional cardiac symptoms and 4 have died. Males with EDMD may survive longer with a ventricular pacemaker, but this may increase the likelihood that they will develop cardiomyopathy and ventricular arrhythmias. Of 34 carrier females examined, 6 had arrhythmias typical of EDMD. Two required a pacemaker. The risk of arrhythmia increased with age. Results from one family should be extrapolated to another with caution, as there appears to be significant interfamilial variation. We suggest careful cardiologic follow-up of EDMD patients and regular cardiac evaluations for older carrier females.