Anna Ludwig

Left ventricular systolic function and the pattern of late-gadolinium-enhancement independently and additively predict adverse cardiac events in muscular dystrophy patients

BackgroundCardiac involvement is a frequent finding in patients with Duchenne (DMD) and Becker (BMD) muscular dystrophies. With this study, we aimed at elucidating the relationship between the phenotypic expression of cardiac involvement and the occurrence of adverse cardiac events in DMD/BMD patients.MethodsEighty-eight male DMD/BMD patients (age 29 ± 14 yrs) were prospectively enrolled. All patients underwent cardiovascular magnetic resonance (CMR) comprising cine- and late-gadolinium-enhancement (LGE)-CMR at study entry and were subsequently followed-up for adverse cardiac events. The primary endpoint was defined as all-cause/cardiac death or cardiac transplantation. Secondary endpoints were (1) hospitalization for heart failure and/or (2) occurrence of non-/sustained ventricular tachycardia (VT).ResultsDuring a mean follow-up time of 47 ± 18 months, the primary endpoint was observed in three (3%) and the secondary endpoint in 21 (24%) patients. On multivariable analysis, LV-EF (HR, 95% CI: 0.94, 0.89-0.97, p = 0.001) and the presence of “transmural” LGE (HR, 95% CI: 2.89, 1.09-7.68, p = 0.033) were the only independent predictors for secondary endpoints. A cut-off for LV-EF of 45% was associated with the highest hazard ratio (HR, 95% CI: 11.50, 4.49-29.43, p < 0.0001) in a Cox regression survival analysis. In the group of patients with a LV-EF (>45%), those patients already showing “transmural” LGE had a significantly lower event-free-survival (HR, 95% CI: 13.48, 1.89-96.12, p = 0.009) compared to those without.ConclusionsAn impaired LV systolic function (LV-EF ≤45%) and a “transmural” pattern of myocardial fibrosis independently predict the occurrence of adverse cardiac events in DMD/BMD patients. Even in DMD/BMD patients with relatively preserved LV-EF (>45%), the simple and visually assessable parameter “transmural LGE” is of additive prognostic value.

Cause of Cardiac Disease in a Female Carrier of Duchenne Muscular Dystrophy Myocarditis Versus Genetic Cardiomyopathy Without Skeletal Myopathy

A 51-year–old woman experienced a respiratory tract infection with fever followed by persistent fatigue and muscle pain in her extremities for >2 months. Family history revealed a 30-year–old wheelchair-bound son with advanced myopathy suffering from Duchenne muscular dystrophy (DMD; deletion in the dystrophin gene). Blood analysis in the mother revealed an elevated total creatine kinase (CK) level of 479 U/L (normal, <190 U/L) with a normal creatine kinase-MB (CK-MB) level of 17 U/L (normal, <25 U/l). Additional workup of (skeletal) myopathy was composed of a calf muscle biopsy with normal histopathologic findings (Figure 1): in particular, there were no signs of structural abnormalities, inflammation, or dystrophin deficiency. Genetic analysis of blood cells revealed a heterozygous dystrophin gene mutation, and the female patient was identified as a–probably symptomatic–DMD carrier. Figure 1. Hematoxylin-eosin (HE) staining of a skeletal muscle biopsy sample taken from the female Duchenne muscular dystrophy carrier: regular-sized and -shaped myocytes can be seen. Inserted images show immunohistochemical dystrophin stainings (DYS) with 3 different dystrophin antibodies: there are no signs of dystrophin deficiency. In addition to muscle pain, she was also experiencing dyspnea on exertion and fatigue and, therefore, presented to our hospital. She was in an acceptable general condition, and her physical examination was unremarkable. Her resting ECG demonstrated sinus rhythm without any repolarization abnormalities. A cardiovascular magnetic resonance imaging (CMR) study was performed on a …

Magnetic resonance of the heart in a muscular dystrophy patient with an MR conditional ICD: Assessment of safety, diagnostic value and technical limitations

Cardiovascular magnetic resonance (CMR) studies in patients with pacemakers or implantable cardioverter/defibrillators (ICD) are increasingly required in daily clinical practice. Therefore, in the last years the manufacturers developed not only MR-conditional pacemakers, but also MR-conditional ICDs. However, the clinical experience regarding the feasibility and limitations of MR studies of the heart in patients with ICDs is still limited. In particular, there are hardly any CMR studies in the same patients performed prior to and post ICD implantation allowing a one-to-one comparison of the obtained CMR images. This is the first presentation of a CMR study in a patient with the world’s first and so far only MR-conditional ICD. In our case, a major problem related to the presence of the MR conditional ICD was an image artifact caused by the device’s generator which hampered the visualization of the midventricular and apical anterior and antero-lateral segments in all sequences performed. Considering previous studies, right chest implantation of the ICD could probably have helped in this setting and may be preferred in future ICD implantations. Our case report nicely illustrates the real clinical need for specially designed implantable devices that ensure safe and high-quality imaging in patients in whom serial CMR is required.