Boriani Giuseppe, Gallina Margherita, Merlini Luciano, Bonne Gisèle, Toniolo Daniela, Amati Silvia, Biffi Mauro, Martignani Cristian, Frabetti Lorenzo, Bonvicini Marco, Rapezzi Claudio, Branzi Angelo
Institute of Cardiology, Policlinico S. Orsola-Malpighi, University of Bologna, Italy.
Stroke. 2003 Apr;34(4):901-8. doi: 10.1161/01.STR.0000064322.47667.49. Epub 2003 Mar 20.
Emery-Dreifuss muscular dystrophy (EDMD) is a rare inherited disorder associated with cardiac involvement. We investigated the spectrum and relevance of the cardiac manifestations of EDMD, focusing on bradyarrhythmias and tachyarrhythmias (including atrial fibrillation/flutter), embolic stroke, and heart failure.
Eighteen patients (age 42.8+/-19.6 years) with genetically confirmed X-linked (n=10, including 3 carriers) or autosomal dominant (n=8) EDMD were followed for a period ranging from 1 to 30 years in a research center for neuromuscular diseases and in a university cardiological department. Pacemakers were required by 10 of 18 (56%) patients for bradyarrhythmia, and related complications occurred in 3 of 10 (30%) cases. Atrial fibrillation/flutter developed in 11 of 18 (61%) patients, with atrial standstill subsequently occurring in 5 of 11 (45%) cases and embolic stroke (most often disabling) in 4 of 11 (36%). Heart failure requiring transplantation occurred in 1 of 18 (6%) patients, and asymptomatic left ventricular dysfunction in a further 3 (17%). No relationship was evident between neuromuscular impairment and cardiac involvement.
Both X-linked and autosomal dominant EDMD patients risk not only bradyarrhythmia (requiring pacemaker implant) but also atrial fibrillation/flutter, which often anticipates atrial standstill and can cause disabling embolic stroke at a relatively young age. Antithromboembolic prophylaxis has to be recommended in EDMD patients with atrial fibrillation/flutter or atrial standstill. With careful monitoring, survival after pacemaker implant may be long. Heart failure, which seems to occur only in a minority of patients, may be severe.
埃默里-德赖富斯肌营养不良症（EDMD）是一种罕见的遗传性疾病，与心脏受累有关。我们研究了EDMD心脏表现的范围及相关性，重点关注缓慢性心律失常和快速性心律失常（包括心房颤动/扑动）、栓塞性卒中以及心力衰竭。
18例经基因确诊为X连锁型（n = 10，包括3名携带者）或常染色体显性遗传型（n = 8）EDMD的患者，在一家神经肌肉疾病研究中心和一所大学的心脏病科接受了为期1至30年的随访。18例患者中有10例（56%）因缓慢性心律失常需要植入起搏器，其中10例中有3例（30%）发生了相关并发症。18例患者中有11例（61%）出现心房颤动/扑动，其中11例中有5例（45%）随后发生心房停搏，11例中有4例（36%）发生栓塞性卒中（多数导致残疾）。18例患者中有1例（6%）因心力衰竭需要进行心脏移植，另有3例（17%）出现无症状左心室功能障碍。神经肌肉损伤与心脏受累之间无明显关联。
X连锁型和常染色体显性遗传型EDMD患者不仅有缓慢性心律失常（需要植入起搏器）的风险，还存在心房颤动/扑动的风险，心房颤动/扑动常先于心房停搏出现，且可在相对年轻时导致致残性栓塞性卒中。对于伴有心房颤动/扑动或心房停搏的EDMD患者，必须推荐进行抗血栓栓塞预防。通过仔细监测，起搏器植入后的生存期可能较长。心力衰竭似乎仅发生在少数患者中，但可能较为严重。
