女性肌营养不良症杂合子的运动诱导左心室收缩功能障碍。
Exercise-induced left ventricular systolic dysfunction in women heterozygous for dystrophinopathy.
机构信息
University of Iowa Hospitals and Clinics, Division of Cardiovascular Medicine, Department of Internal Medicine, 200 Hawkins Drive, Room E317-1 GH, Iowa City, IA 52242, USA.
出版信息
J Am Soc Echocardiogr. 2010 Aug;23(8):848-53. doi: 10.1016/j.echo.2010.05.007. Epub 2010 Jun 19.
BACKGROUND
Mutations in the X-linked gene encoding dystrophin cause skeletal and cardiac muscle diseases in men. Female "carriers" also can develop overt disease. The purpose of this study was to ascertain the prevalence of cardiac contractile abnormalities in dystrophinopathy carriers.
METHODS
Twenty-four dystrophinopathy heterozygotes and 24 normal women each underwent standard exercise stress echocardiography.
RESULTS
Heterozygotes demonstrated mildly lower left ventricular ejection fractions (LVEFs) at rest compared with controls (0.56 + or - 0.10 vs 0.62 + or - 0.07, P = .02). After exercise, the mean LVEF fell to 0.53 + or - 0.14 in heterozygotes but rose to 0.73 + or - 0.07 in controls (P < .001). Twenty-one of 24 dystrophinopathy heterozygotes demonstrated > or = 1 of the following: abnormal resting LVEF, abnormal LVEF response to exercise, or exercise-induced wall motion abnormality.
CONCLUSIONS
Women heterozygous for dystrophinopathy demonstrate significant left ventricular systolic dysfunction, which is unmasked by exercise. This finding has mechanistic implications for both inherited and acquired cardiac disease states.
背景
编码肌营养不良蛋白的 X 连锁基因突变导致男性出现骨骼和心肌疾病。女性“携带者”也可能出现明显的疾病。本研究旨在确定肌营养不良蛋白病携带者的心肌收缩异常的患病率。
方法
24 名肌营养不良蛋白病杂合子和 24 名正常女性均接受标准运动超声心动图检查。
结果
杂合子在休息时的左心室射血分数（LVEF）略低于对照组（0.56+/-0.10 对 0.62+/-0.07，P=0.02）。运动后，杂合子的平均 LVEF 降至 0.53+/-0.14，但对照组升至 0.73+/-0.07（P<0.001）。24 名肌营养不良蛋白病杂合子中有 21 名表现出以下 1 种或多种异常：静息 LVEF 异常、LVEF 对运动的反应异常或运动引起的壁运动异常。
结论
肌营养不良蛋白病的女性杂合子表现出明显的左心室收缩功能障碍，运动可使其显现。这一发现对遗传性和获得性心脏疾病状态都具有机制意义。
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