Demolder Anthony, von Kodolitsch Yskert, Muiño-Mosquera Laura, De Backer Julie
Centre for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.
Department of Cardiology, University Heart Center, 20251 Hamburg, Germany.
Diagnostics (Basel). 2020 Sep 25;10(10):751. doi: 10.3390/diagnostics10100751.
Marfan syndrome (MFS) is a heritable systemic connective tissue disease with important cardiovascular involvement, including aortic root dilatation and mitral valve prolapse. Life expectancy in patients with MFS is mainly determined by cardiovascular complications, among which aortic dissection or rupture are most dreaded. In recent years, heart failure and ventricular arrhythmia have drawn attention as extra-aortic cardiovascular manifestations and as additional reported causes of death. Imaging studies have provided data supporting a primary myocardial impairment in the absence of valvular disease or cardiovascular surgery, while studies using ambulatory ECG have demonstrated an increased susceptibility to ventricular arrhythmia. In this paper, current literature was reviewed in order to provide insights in characteristics, pathophysiology and evolution of myocardial function, heart failure and ventricular arrhythmia in MFS.
马凡综合征(MFS)是一种遗传性全身性结缔组织疾病,伴有重要的心血管受累,包括主动脉根部扩张和二尖瓣脱垂。MFS患者的预期寿命主要取决于心血管并发症,其中主动脉夹层或破裂最为可怕。近年来,心力衰竭和室性心律失常作为主动脉外心血管表现以及新增报道的死亡原因受到关注。影像学研究提供的数据支持在无瓣膜疾病或心血管手术的情况下存在原发性心肌损害,而动态心电图研究表明对室性心律失常的易感性增加。本文对当前文献进行综述,以便深入了解MFS中心肌功能、心力衰竭和室性心律失常的特征、病理生理学及演变情况。