Cardiac Involvement in Myotonic Dystrophy Type 2 Patients With Preserved Ejection Fraction Detection by Cardiovascular Magnetic Resonance
Cardiac Involvement in Myotonic Dystrophy Type 2 Patients With Preserved Ejection Fraction Detection by Cardiovascular Magnetic Resonance
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DOI：
10.1161/circimaging.115.004615
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发表时间：
2016-07-01
影响因子：
7.5
通讯作者：
Schulz-Menger, Jeanette
中科院分区：
文献类型：
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作者：
Schmacht, Luisa;Traber, Julius;Schulz-Menger, Jeanette
背景-强直性肌营养不良2型(DM2)是一种以骨骼肌症状、代谢改变和心脏受累为特征的遗传性疾病。骨骼肌的组织病理学改变包括纤维化和脂肪渗透。这项研究的目的是调查心血管磁共振是否已经可以在保存的左心功能中检测到DM2的亚临床心脏受累。方法和结果-27名经基因诊断的DM2患者(平均年龄54+/-10岁；20名女性)与17名年龄和性别匹配的健康对照组进行了1.5T磁共振成像比较。对于心肌组织的分化，进行了T1和T2标测，脂肪/水分离成像，局灶性纤维化成像(晚期Gd增强[LGE])和H-1磁共振波谱。计算细胞外体积分数。根据Groh标准诊断传导异常。22%的患者可检出位于心外膜下基底下方的LGE。细胞外体积在该区域和邻近的内侧下外侧节段增加(P=0.03)。在21%的DM2患者中，可检测到脂肪沉积(全部为女性)。对照组未见异常。LGE阳性组和阴性组心肌甘油三酯差异无统计学意义(P=0.47)。有6例患者有传导疾病的指标(60%的LGE阳性患者和12.5%的LGE阴性患者)。结论：在DM2中，保存的左心室射血分数中已经可以检测到亚临床心肌损伤。在无局灶性纤维化的区域，细胞外体积也增加。心肌纤维化与传导异常有关。
Background-Myotonic dystrophy type 2 (DM2) is a genetic disorder characterized by skeletal muscle symptoms, metabolic changes, and cardiac involvement. Histopathologic alterations of the skeletal muscle include fibrosis and fatty infiltration. The aim of this study was to investigate whether subclinical cardiac involvement in DM2 is already detectable in preserved left ventricular function by cardiovascular magnetic resonance.Methods and Results-Twenty-seven patients (mean age, 54 +/- 10 years; 20 females) with a genetically confirmed diagnosis of DM2 were compared with 17 healthy age-and sex-matched controls using a 1.5 T magnetic resonance imaging. For myocardial tissue differentiation, T1 and T2 mapping, fat/water-separated imaging, focal fibrosis imaging (late gadolinium enhancement [LGE]), and H-1 magnetic resonance spectroscopy were performed. Extracellular volume fraction was calculated. Conduction abnormalities were diagnosed based on Groh criteria. LGE located subepicardial basal inferolateral was detectable in 22% of the patients. Extracellular volume was increased in this region and in the adjacent medial inferolateral segment (P=0.03 compared with healthy controls). In 21% of patients with DM2, fat deposits were detectable (all women). The control group showed no abnormalities. Myocardial triglycerides were not different in LGE-positive and LGE-negative subjects (P=0.47). Six patients had indicators for conduction disease (60% of LGE-positive patients and 12.5% of LGE-negative patients).Conclusions-In DM2, subclinical myocardial injury was already detectable in preserved left ventricular ejection fraction. Extracellular volume was also increased in regions with no focal fibrosis. Myocardial fibrosis was related to conduction abnormalities.