BACKGROUND Facioscapulohumeral 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). METHODS We prospectively included patients with genetically confirmed FSHD1 (n = 52, 48 ± 15 years) and compared them with 29 healthy age-matched controls using a 1.5 T 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. RESULTS Focal 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: 1012 ± 26 ms vs. controls: 985 ± 28 ms, p < 0.01, medial FSHD1: 994 ± 37 ms vs. controls: 982 ± 28 ms, p = 0.028). This was also evident in regions adjacent to focal fibrosis, indicating diffuse fibrosis. Groh-criteria were positive in 1 patient. In Holter, arrhythmic events were recorded in 10/43 subjects (23%). CONCLUSIONS Patients with FSHD1 and preserved left ventricular ejection fraction present focal and diffuse myocardial injury. Longitudinal multi-center trials are needed to define the impact of myocardial changes as well as a relation between myocardial injury and arrhythmias on long-term prognosis and therapeutic decision-making. TRIAL REGISTRATION ISRCTN registry with study ID ISRCTN13744381 .

中文翻译：

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肩cap肱型肌营养不良1并保留射血分数的患者的亚临床心肌损伤-通过心血管磁共振评估。

背景技术1型肩肱肱型肌营养不良症（FSHD1）是常染色体显性遗传，是第三大最常见的遗传性肌肉疾病。当前在几种肌肉营养不良（MD）中描述了心脏受累，但是FSHD1中的报道相互矛盾。多数情况下，FSHD1被认为是不常见的心脏受累的MD，但是在单例中据报道有心脏猝死的报道。这项研究的目的是调查使用心血管磁共振（CMR）在FSHD1患者的亚临床心脏受累是否可在保留的左心室收缩功能中检测到。方法我们前瞻性地纳入了经遗传学证实为FSHD1的患者（n = 52，48±15岁），并使用1.5 T CMR扫描仪将他们与29名年龄匹配的健康对照者进行了比较。使用局灶性纤维化成像（晚期late增强（LGE）），脂肪成像（脂肪/水分离的多回波序列）以及参数化T2和T1映射定量量化炎症和弥散性纤维化，从而进行心肌组织分化的定性分析。计算细胞外体积分数。进行了12导联心电图和24小时动态心电图评估MD特定的Groh准则和心律不齐。结果LGE引起的局灶性纤维化发生在13例患者中（25％，10名男性），脂肪浸润发生在7例患者中（13％，5名男性）。FSHD1和健康对照之间的T2值没有差异。原始T1映射显示患者明显更高的值（基础上的全球原始心肌T1值：FSHD1：1012±26 ms vs.对照组：985±28 ms，p <0.01，内侧FSHD1：994±37 ms vs.对照组：982±28 ms，p ＝ 0.028）。这在邻近局灶性纤维化的区域也很明显，表明弥漫性纤维化。1名患者的Groh标准为阳性。在Holter中，有10/43名受试者（23％）记录到心律失常事件。结论FSHD1并保留左心室射血分数的患者表现为局灶性和弥漫性心肌损伤。需要进行纵向多中心试验来确定心肌变化的影响以及心肌损伤和心律不齐之间对长期预后和治疗决策的关系。试验注册号为ISRCTN13744381的ISRCTN注册中心。结论FSHD1并保留左心室射血分数的患者表现为局灶性和弥漫性心肌损伤。需要进行纵向多中心试验来确定心肌变化的影响以及心肌损伤和心律不齐之间对长期预后和治疗决策的关系。试验注册号为ISRCTN13744381的ISRCTN注册中心。结论FSHD1并保留左心室射血分数的患者表现为局灶性和弥漫性心肌损伤。需要进行纵向多中心试验来确定心肌变化的影响以及心肌损伤和心律不齐之间对长期预后和治疗决策的关系。试验注册号为ISRCTN13744381的ISRCTN注册中心。