Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands.
Neurology. 2011 Jul 5;77(1):62-6. doi: 10.1212/WNL.0b013e318221ad14. Epub 2011 Jun 22.
Cardiac involvement has been reported in carriers of dystrophin mutations giving rise to Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). The progress of these abnormalities during long-term follow-up is unknown. We describe the long-term follow-up of dilated cardiomyopathy (DCM) in DMD/BMD carriers.
A long-term follow-up study was performed among Dutch DMD/BMD carriers first analyzed in 1995. A cardiac history was taken, and all carriers were assigned a functional score to assess skeletal muscle involvement. Electrocardiography and M-mode and 2-D echocardiography were performed. DCM was defined as an enlarged left ventricle with a global left ventricle dysfunction or fractional shortening less than 28%. Slow vital capacity of the lung was measured by a hand-held spirometer.
Ninety-nine carriers were monitored with a median follow-up of 9 years (range 7.0-10.6 years). Eleven carriers with DCM (10 DMD, 1 BMD) were identified. Nine of them developed DCM in the follow-up period. One of the patients with DCM reported in the 1995 study died of cardiac failure at age 57 years. DCM was more frequently found in carriers who were functionally symptomatic.
Cardiac abnormalities in DMD/BMD carriers are progressive, as in patients with DMD/BMD.
已有报道称，携带有导致杜兴氏肌营养不良症（DMD）和贝克肌营养不良症（BMD）的肌营养不良蛋白突变的患者会出现心脏受累。这些异常在长期随访期间的进展情况尚不清楚。我们描述了 DMD/BMD 携带者扩张型心肌病（DCM）的长期随访结果。
对 1995 年首次分析的荷兰 DMD/BMD 携带者进行了长期随访研究。采集了心脏病史，并为每位携带者分配了一个功能评分，以评估骨骼肌受累情况。进行了心电图、M 型和 2-D 超声心动图检查。DCM 的定义为左心室扩大伴整体左心室功能障碍或节段缩短率<28%。通过手持式肺活量计测量肺缓慢肺活量。
99 名携带者接受了监测，中位随访时间为 9 年（范围 7.0-10.6 年）。发现 11 名携带者患有 DCM（10 名 DMD，1 名 BMD）。其中 9 名在随访期间发生 DCM。在 1995 年研究中报告的一名 DCM 患者因心力衰竭于 57 岁时死亡。在有功能症状的携带者中，更常发现心脏异常。
DMD/BMD 携带者的心脏异常是进行性的，与 DMD/BMD 患者相似。
