Abstract
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, 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.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: 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%).ConclusionsPatients 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 registrationISRCTN registry with study ID ISRCTN13744381.
Highlights
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is an autosomal dominant and the third most common inherited muscle disease
The aim of this study is to investigate whether subclinical cardiac involvement in FSHD1 patients is detectable in still preserved left ventricular (LV) systolic function applying cardiovascular magnetic resonance (CMR)
For the comparisons of healthy volunteers to patients as well as within the FSHD1 group, we used an unpaired t-test and CMR analysis LV chamber quantification No significant differences were found between patients and healthy subjects in left ventricular ejection fraction (LVEF) (p = 0.253), LV mass Index (p = 0.211) as well as LV end-diastolic volume index (LVEDVi) (p = 0.192). (Table 2)
Summary
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. 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). Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is an autosomal dominant disorder and the third most common inherited muscle disease with an incidence of 1:8.000–1:20.000 [1]. Diagnosis of FSHD1 is often suspected in patients with presence of progressive asymmetric weakness of the face and shoulder muscles. Females have later onset and slower progression. This leads to a rate of 20% of misdiagnosed FSHD1 patients. The molecular test used for FSHD1 diagnosis is primarily based on the initial observation, that 95% of FSHD1 patients carry a reduction of integral numbers of D4Z4 repeats at 4q35 of the subtelomeric region of chromosome 4 [4]
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