心肌晚期钆增强与杜氏肌营养不良携带者的临床表现相关。
Myocardial late gadolinium enhancement is associated with clinical presentation in Duchenne muscular dystrophy carriers.
作者信息
Wexberg Paul, Avanzini Marion, Mascherbauer Julia, Pfaffenberger Stefan, Freudenthaler Birgit, Bittner Reginald, Bernert Günther, Weidinger Franz
机构信息
2nd Medical Department, Krankenanstalt Rudolfstiftung, Vienna, Austria.
SVA-Gesundheitszentrum, Hartmanngasse 2b, Vienna, A-1051, Austria.
出版信息
J Cardiovasc Magn Reson. 2016 Sep 22;18(1):61. doi: 10.1186/s12968-016-0281-y.
BACKGROUND
Duchenne muscular dystrophy (DMD) is an X-linked recessive disease that occurs in males leading to immobility and death in early adulthood. Female carriers of DMD are generally asymptomatic, yet frequently develop dilated cardiomyopathy. This study aims to detect early cardiac manifestation in DMD using cardiovascular magnetic resonance (CMR) and to evaluate its association with clinical symptoms.
METHODS
Clinical assessment of DMD carriers included six minutes walk tests (6MWT), blood analysis, electrocardiography, echocardiography, and CMR using FLASH sequences to detect late gadolinium enhancement (LGE). T1-mapping using the Modified Look-Locker Inversion recovery (MOLLI) sequence was performed quantify extracellular volume (ECV).
RESULTS
Of 20 carriers (age 39.47 ± 12.96 years) 17 (89.5 %) were clinically asymptomatic. ECV was mildly elevated (29.79 ± 2.92 %) and LGE was detected in nine cases (45 %). LGE positive carriers had lower left ventricular ejection fraction in CMR (64.36 ± 5.78 vs. 56.67 ± 6.89 %, p = 0.014), higher bothCK (629.89 ± 317.48 vs. 256.18 ± 109.10 U/l, p = 0.002) and CK-MB (22.13 ± 5.25 vs. 12.11 ± 2.21 U/l, p = 0.001), as well as shorter walking distances during the 6MWT (432.44 ± 96.72 vs. 514.91 ± 66.80 m, p = 0.037). 90.9 % of subjects without LGE had normal pro-BNP, whereas in 66.7 % of those presenting LGE pro-BNP was elevated (p = 0.027). All individuals without LGE were in the NYHA class I, whereas all those in NYHA classes II and III showed positive for LGE (p = 0.066).
CONCLUSIONS
Myocardial involvement shown as LGE in CMR occurs in a substantial number of DMD carriers; it is associated with clinical and morphometric signs of incipient heart failure. LGE is thus a sensitive parameter for the early diagnosis of cardiomyopathy in DMD carriers.
TRIAL REGISTRATION
Clinicaltrials.gov, NCT01712152 Trial registration: October 19, 2012. First patient enrolled: September 27, 2012 (retrospectively registered).
背景
杜氏肌营养不良症（DMD）是一种X连锁隐性疾病，男性患者会出现运动功能丧失，并在成年早期死亡。DMD女性携带者通常无症状，但经常会发展为扩张型心肌病。本研究旨在使用心血管磁共振成像（CMR）检测DMD患者的早期心脏表现，并评估其与临床症状的相关性。
方法
对DMD携带者进行临床评估，包括六分钟步行试验（6MWT）、血液分析、心电图、超声心动图以及使用快速成像稳态进动序列（FLASH）进行CMR检查以检测延迟钆增强（LGE）。使用改良Look-Locker反转恢复（MOLLI）序列进行T1映射以量化细胞外容积（ECV）。
结果
20名携带者（年龄39.47±12.96岁）中，17名（89.5%）临床无症状。ECV轻度升高（29.79±2.92%），9例（45%）检测到LGE。LGE阳性携带者的CMR左心室射血分数较低（64.36±5.78%对56.67±6.89%，p=0.014），肌酸激酶（CK）（629.89±317.48对256.18±109.10 U/l，p=0.002）和肌酸激酶同工酶MB（CK-MB）（22.13±5.25对12.11±2.21 U/l，p=0.001）均较高，且6MWT期间步行距离较短（432.44±96.72对514.91±66.80 m，p=0.037）。无LGE的受试者中90.9%的氨基末端B型利钠肽原（pro-BNP）正常，而有LGE的受试者中66.7%的pro-BNP升高（p=0.027）。所有无LGE的个体均处于纽约心脏协会（NYHA）心功能I级，而所有NYHA心功能II级和III级的个体LGE均为阳性（p=0.066）。
结论
CMR显示为LGE的心肌受累在大量DMD携带者中存在；它与早期心力衰竭的临床和形态学体征相关。因此，LGE是DMD携带者心肌病早期诊断的敏感参数。
试验注册
Clinicaltrials.gov，NCT01712152 试验注册时间：2012年10月19日。首例患者入组时间：2012年9月27日（回顾性注册）。
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