D'Amario Domenico, Amodeo Antonio, Adorisio Rachele, Tiziano Francesco Danilo, Leone Antonio Maria, Perri Gianluigi, Bruno Piergiorgio, Massetti Massimo, Ferlini Alessandra, Pane Marika, Niccoli Giampaolo, Porto Italo, D'Angelo Gianluca A, Borovac Josip Anđelo, Mercuri Eugenio, Crea Filippo
Department of Cardiovascular Medicine, Catholic University of the Sacred Heart, Rome, Italy.
Department of Paediatric Cardiology and Cardiac Surgery, Bambino Gesù Hospital, Rome, Italy.
Heart. 2017 Nov;103(22):1770-1779. doi: 10.1136/heartjnl-2017-311269. Epub 2017 Jul 1.
Duchenne muscular dystrophy (DMD) is a genetic, progressive neuromuscular condition that is marked by the long-term muscle deterioration with significant implications of pulmonary and cardiac dysfunction. As such, end-stage heart failure (HF) in DMD is increasingly becoming the main cause of death in this population. The early detection of cardiomyopathy is often challenging, due to a long subclinical phase of ventricular dysfunction and difficulties in assessment of cardiovascular symptomatology in these patients who usually loose ambulation during the early adolescence. However, an early diagnosis of cardiovascular disease in patients with DMD is decisive since it allows a timely initiation of cardioprotective therapies that can mitigate HF symptoms and delay detrimental heart muscle remodelling. Echocardiography and ECG are standardly used for screening and detection of cardiovascular abnormalities in these patients, although these tools are not always adequate to detect an early, clinically asymptomatic phases of disease progression. In this regard, cardiovascular magnetic resonance (CMR) with late gadolinium enhancement is emerging as a promising method for the detection of early cardiac involvement in patients with DMD. The early detection of cardiac dysfunction allows the therapeutic institution of various classes of drugs such as corticosteroids, beta-blockers, ACE inhibitors, antimineralocorticoid diuretics and novel pharmacological and surgical solutions in the multimodal and multidisciplinary care for this group of patients. This review will focus on these challenges and available options for HF in patients with DMD.
杜氏肌营养不良症（DMD）是一种遗传性、进行性神经肌肉疾病，其特征是长期肌肉退化，并对肺和心脏功能产生重大影响。因此，DMD患者的终末期心力衰竭（HF）越来越成为该人群的主要死因。由于心室功能障碍的亚临床期较长，且这些患者在青春期早期通常会失去行走能力，难以评估心血管症状，因此心肌病的早期检测往往具有挑战性。然而，DMD患者心血管疾病的早期诊断至关重要，因为它能及时启动心脏保护治疗，减轻HF症状，延缓有害的心肌重塑。超声心动图和心电图通常用于筛查和检测这些患者的心血管异常，尽管这些工具并不总是足以检测疾病进展的早期临床无症状阶段。在这方面，钆延迟增强心血管磁共振成像（CMR）正成为检测DMD患者早期心脏受累的一种有前景的方法。心脏功能障碍的早期检测使得在对这组患者进行多模式和多学科护理时，可以使用各类药物进行治疗，如皮质类固醇、β受体阻滞剂、血管紧张素转换酶抑制剂、抗盐皮质激素利尿剂以及新的药物和手术解决方案。本综述将聚焦于DMD患者HF的这些挑战和可用选项。
