@article{8675887,
  abstract     = {{Patients with Marfan syndrome (MFS), a connective tissue disorder caused by pathogenic variants in the gene encoding the extracellular matrix protein fibrillin-1, have an increased prevalence of primary cardiomyopathy, arrhythmias, and sudden cardiac death. We have performed an in-depth in vivo and ex vivo study of the cardiac phenotype of Fbn1mgR/mgR mice, an established mouse model of MFS with a severely reduced expression of fibrillin-1. Using ultrasound measurements, we confirmed the presence of aortic dilatation and observed cardiac diastolic dysfunction in male Fbn1mgR/mgR mice. Upon post-mortem examination, we discovered that the mutant mice consistently presented myocardial lesions at the level of the right ventricular free wall, which we characterized as spontaneous pseudoaneurysms. Histological investigation demonstrated a decrease in myocardial compaction in the MFS mouse model. Furthermore, continuous 24 h electrocardiographic analysis showed a decreased heart rate variability and an increased prevalence of extrasystolic arrhythmic events in Fbn1mgR/mgR mice compared to wild-type littermates. Taken together, in this paper we document a previously unreported cardiac phenotype in the Fbn1mgR/mgR MFS mouse model and provide a detailed characterization of the cardiac dysfunction and rhythm disorders which are caused by fibrillin-1 deficiency. These findings highlight the wide spectrum of cardiac manifestations of MFS, which might have implications for patient care.}},
  articleno    = {{7024}},
  author       = {{Steijns, Felke and Renard, Marjolijn and Vanhomwegen, Marine and Vermassen, Petra and Desloovere, Jana and Raedt, Robrecht and Larsen, Lars Emil and Tóth, Máté István and De Backer, Julie and Sips, Patrick}},
  issn         = {{1422-0067}},
  journal      = {{INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES}},
  keywords     = {{marfan syndrome,fibrillin-1,cardiac function,myocardial compaction,ventricular pseudoaneurysm,electrocardiogram,arrhythmia,HEART-RATE-VARIABILITY,MITRAL-VALVE-PROLAPSE,IN-VIVO,EX-VIVO,CARDIOMYOPATHY,MICROFIBRILS,DYSFUNCTION,CHILDREN,EVENTS,ADULTS}},
  language     = {{eng}},
  number       = {{19}},
  pages        = {{19}},
  title        = {{Spontaneous right ventricular pseudoaneurysms and increased arrhythmogenicity in a mouse model of Marfan syndrome}},
  url          = {{http://doi.org/10.3390/ijms21197024}},
  volume       = {{21}},
  year         = {{2020}},
}

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