Subclinical myocardial injury in patients with Facioscapulohumeral muscular dystrophy 1 and preserved ejection fraction - assessment by cardiovascular magnetic resonance
Subclinical myocardial injury in patients with Facioscapulohumeral muscular dystrophy 1 and preserved ejection fraction - assessment by cardiovascular magnetic resonance
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DOI：
10.1186/s12968-019-0537-4
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发表时间：
2019-04-29
影响因子：
6.4
通讯作者：
Schulz-Menger, Jeanette
中科院分区：
文献类型：
--
作者：
Blaszczyk, Edyta;Grieben, Ulrike;Schulz-Menger, Jeanette
1型面肩肱型肌营养不良症（Facioscapulohumeral muscular dystrophy type 1，FSHD 1）是一种常染色体显性遗传性肌肉疾病，发病率居世界第三位。心脏受累目前在几种肌营养不良症（MD）中有描述，但在FSHD 1中有相互矛盾的报道。大多数情况下，FSHD 1被认为是一种罕见的心脏受累的MD，但心源性猝死在单个病例中有报道。本研究的目的是研究FSHD 1患者的亚临床心脏受累是否可以通过心血管磁共振（CMR）在保留的左心室收缩功能中检测到。（n=52，4815岁）并与29名年龄匹配的健康对照者进行比较。使用局灶性纤维化成像（晚期钆增强（LGE））、脂肪成像（脂肪/水分离的多回波序列）和参数T2和T1标测定性进行心肌组织分化，以量化炎症和弥漫性纤维化。计算细胞外体积分数。结果13例（25%，10例男性）LGE显示局灶性纤维化，7例（13%，5例男性）脂肪浸润。FSHD 1和健康对照组之间的T2值没有差异。自体T1标测显示患者的整体自体心肌T1值显著更高（基础：FSHD 1：101226 ms vs.对照：985 +/-28 ms，p
BackgroundFacioscapulohumeral muscular dystrophy type 1 (FSHD1) is an autosomal dominant and the third most common inherited muscle disease. Cardiac involvement is currently described in several muscular dystrophies (MD), but there are conflicting reports in FSHD1. Mostly, FSHD1 is recognized as MD with infrequent cardiac involvement, but sudden cardiac deaths are reported in single cases.The aim of this study is to investigate whether subclinical cardiac involvement in FSHD1 patients is detectable in preserved left ventricular systolic function applying cardiovascular magnetic resonance (CMR).MethodsWe prospectively included patients with genetically confirmed FSHD1 (n=52, 4815years) and compared them with 29 healthy age-matched controls using a 1.5T CMR scanner. Myocardial tissue differentiation was performed qualitatively using focal fibrosis imaging (late gadolinium enhancement (LGE)), fat imaging (multi-echo sequence for fat/water-separation) and parametric T2- and T1-mapping for quantifying inflammation and diffuse fibrosis. Extracellular volume fraction was calculated. A 12-lead electrocardiogram and 24-h Holter were performed for the assessment of MD-specific Groh-criteria and arrhythmia.ResultsFocal fibrosis by LGE was present in 13 patients (25%,10 men), fat infiltration in 7 patients (13%,5 men). T2 values did not differ between FSHD1 and healthy controls. Native T1 mapping revealed significantly higher values in patients (global native myocardial T1 values basal: FSHD1: 101226ms vs. controls: 985 +/- 28ms, p