Left ventricular hypertrophy: A rare cardiac involvement of Becker muscular dystrophy
Left ventricular hypertrophy: A rare cardiac involvement of Becker muscular dystrophy
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左心室肥厚：贝克型肌营养不良症罕见的心脏受累
DOI：
10.1016/j.kjms.2016.04.013
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发表时间：
2016
期刊：
影响因子：
--
通讯作者：
Qing Zhang
中科院分区：
文献类型：
--
作者：
Yu Kang;Yucheng Chen;Qing Zhang
由于Duchenne肌营养不良症(DMD)基因的不同突变位点，Becker型肌营养不良症(BMD)患者的临床进展较DMD患者温和而缓慢。心脏受累是两种营养不良的常见特征，可在骨骼肌损伤之前或之后发生。无症状心肌病见于大多数病例，多达三分之一的BMD患者出现左或双室扩张[1]。相反，左心室肥厚很少被报道。一位32岁的男性患者以劳力性呼吸困难和疲劳为主诉，并伴有轻微的肌肉疼痛和下肢无力2年。体检表现为轻度增大的心脏迟钝，小腿肌肉假性肥大，Gowers征，以及轻度的肌肉无力和压痛。实验室检测显示出非常高的生肌酶和生心肌酶水平，包括细胞激酶(CK)4730IU/L(正常范围：19e226IU/L)，乳酸脱氢酶838IU/L(110e220IU/L)，肌红蛋白966 ng/mL(28e72 ng/mL)，CK-MB> 300 ng/L(<；4.94 ng/L)和肌钙蛋白T 80 ng/L(<；14 ng/L)。血清N末端脑利钠肽原水平为512pg/ml(0e88pg/ml)。超声心动图显示左侧导联(V5、V6、I、aVL)左心室肥厚，R波波幅增大，T波倒置。二维超声心动图显示左心室严重肥厚，左心室舒张末内径正常，左心室射血分数保留。未发现流出道梗阻或二尖瓣叶收缩前移(图1A)。此外，心脏磁共振(CMR)检测到心肌延迟强化(图1B)。显示的肌电图
Due to a different mutation site in the Duchenne muscular dystrophy (DMD) gene, patients with Becker muscular dystrophy (BMD) show a milder and slower clinical progression as compared with patients with DMD. Cardiac involvement is a frequent feature of both dystrophies, which can develop before or after skeletal muscle damage. Asymptomatic cardiomyopathy is seen in most cases, and left-or bi-ventricular dilation occurs in up to one-third of patients with BMD [1]. In contrast, left ventricular (LV) hypertrophy has rarely been reported.A 32-year-old male patient was admitted with the chief complaint of exertional dyspnea and fatigue accompanied by mild muscular pain and weakness in the lower extremities for 2 years. Mildly enlarged cardiac dullness, pseudohypertrophy of the calf muscles, Gowers sign, and mild muscular weakness and tenderness in the lower extremities were present on physical examination. Laboratory tests showed very high levels of myogenic and myocardiogenic enzymes, including a cytokinase (CK) of 4730 IU/L (normal range: 19e226 IU/L), lactate dehydrogenase of 838 IU/L (110e220 IU/L), myoglobin of 966 ng/mL (28e72 ng/mL), CK-MB> 300 ng/L (< 4.94 ng/L), and Troponin-T of 80 ng/L (< 14 ng/L). The level of serum N-terminal-pro-brain natriuretic peptide was 512 pg/mL (0e88 pg/ml). The echocardiogram (ECG) demonstrated LV hypertrophy with increased R-wave amplitude and inverted T-wave in the left-sided ECG leads (V5, V6, I, and AVL). Two-dimensional echocardiography revealed severe LV hypertrophy, normal LV end-diastolic dimensions, and a preserved LV-ejection fraction. Neither an outflow tract obstruction nor mitral leaflet systolic anterior motion was detected (Figure 1 A). Moreover, delayed enhancement of the myocardium was detected by cardiac magnetic resonance (CMR)(Figure 1 B). The electromyogram displayed