Wang Mary, Birnkrant David J, Super Dennis M, Jacobs Irwin B, Bahler Robert C
Case Western Reserve School of Medicine, Houston, Texas, USA.
Case Western Reserve School of Medicine at MetroHealth Medical Center, Tucson, Arizona.
Open Heart. 2018 Mar 3;5(1):e000783. doi: 10.1136/openhrt-2018-000783. eCollection 2018.
To describe the natural history of cardiomyopathy in patients with Duchenne muscular dystrophy (DMD) who are receiving contemporary therapies.
This is a single-institution retrospective cohort study of 57 patients aged >15 years with DMD. Serial digital echocardiograms were performed over a median follow-up of 8 years. Left ventricular dysfunction (LVD) was defined as shortening fraction (SF) <29% plus focal wall motion abnormalities. Therapies included ACE inhibitors, beta-blockers and assisted ventilation.
The SF declined progressively in 53/57 patients (93%). LVD occurred in 40 of 57 patients (70%), with variable age at onset (median 18 years, IQR 14-21.5 years). Rate of SF decline (-1.51%±1.16%/year) was variable and unrelated to genotype. However, survival was shorter for patients with LVD onset at age <18 years vs onset at ≥18 years (death at 21.1±2.5 years vs 33.1±4.4 years; P<0.001). Death occurred in 27/57 (47%) patients at a median age of 26.3 years (IQR 20.6-31.5). Death was preceded by LVD in 22/27 patients (81%), 15 (68%) of whom developed class 4 heart failure (CHF). Time from CHF to death was brief (median 8.0 months).
Despite contemporary therapies, SF declined progressively in almost all patients. Age at onset of LVD and age at death were variable and unrelated to genotype; however, survival was shortened for patients with LVD onset at age <18 years. Death was usually preceded by LVD. CHF was a sentinel event, with death occurring shortly thereafter.
描述接受当代疗法的杜氏肌营养不良症（DMD）患者心肌病的自然病史。
这是一项在单一机构进行的回顾性队列研究，研究对象为57名年龄大于15岁的DMD患者。在中位随访8年期间进行了系列数字超声心动图检查。左心室功能障碍（LVD）定义为缩短分数（SF）<29%加上局灶性室壁运动异常。治疗方法包括使用血管紧张素转换酶抑制剂、β受体阻滞剂和辅助通气。
53/57例患者（93%）的SF逐渐下降。57例患者中有40例（70%）发生LVD，发病年龄各不相同（中位年龄18岁，四分位间距14 - 21.5岁）。SF下降率（-1.51%±1.16%/年）各不相同，且与基因型无关。然而，LVD发病年龄<18岁的患者与发病年龄≥18岁的患者相比，生存期较短（分别在21.1±2.5岁和33.1±4.4岁死亡；P<0.001）。27/57例（47%）患者死亡，中位年龄为26.3岁（四分位间距20.6 - 31.5岁）。27例患者中有22例（81%）在死亡前发生了LVD，其中15例（68%）发展为4级心力衰竭（CHF）。从CHF到死亡的时间很短（中位时间8.0个月）。
尽管采用了当代疗法，但几乎所有患者的SF仍逐渐下降。LVD的发病年龄和死亡年龄各不相同，且与基因型无关；然而，LVD发病年龄<18岁的患者生存期较短。死亡通常发生在LVD之后。CHF是一个标志性事件，随后不久即发生死亡。
