Emery-Dreifuss肌营养不良心脏损害的相关研究进展

Research advances in cardiac damage in Emery-Dreifuss muscular dystrophy

摘要:

Emery-Dreifuss肌营养不良（EDMD）是由核膜蛋白编码基因缺失引起的遗传性肌营养不良，发病率极低，约为0.39/10万。其遗传方式大部分为X性连锁隐性遗传和常染色体显性遗传，少数为常染色体隐性遗传。其基因特异性导致本病亚型众多，不同亚型之间临床表现各异，但通常表现为肌肉萎缩、关节挛缩和心脏疾病的三联征。心脏受累在患者中普遍存在且伴随疾病始终。心脏疾病主要表现为室上性心律失常、室性心律失常、传导缺陷及心肌病。左心室功能障碍引起的心力衰竭和猝死是导致该病死亡的重要原因。心脏损害的存在致使该病导致的缺血性脑卒中风险骤增。目前，对于EDMD的治疗方案进行多种研究探索，发现了许多研究方向，但这些治疗方案的探索仍无明确进展，需进一步临床研究。

Abstract:

Emery-Dreifuss muscular dystrophy （EDMD）is a type of inherited muscular dystrophy caused by the deletion of the nuclear membrane protein-coding gene， with an extremely low incidence rate of about 0.39/100 000. The common inheritance patterns of this disease include X-linked recessive inheritance and autosomal dominant inheritance， and autosomal recessive inheritance is observed in a few cases. Due to its genetic specificity， there are many subtypes of this disease， and diverse clinical manifestations are observed between different subtypes， with the common manifestation of a triad of muscular atrophy， joint contracture， and heart disease. Cardiac involvement is commonly observed in patients and runs through the whole course of the disease. The main manifestations of heart disease include supraventricular arrhythmia， ventricular arrhythmia， conduction defect， and cardiomyopathy. Heart failure and sudden death caused by left ventricular dysfunction are important causes of death， and the presence of heart damage causes a significant increase in the risk of ischemic stroke. At present， a large number of studies and explorations have been conducted on the treatment of EDMD， which has identified various research directions， but no progress has been made in the exploration of these treatment regimens， and further clinical studies are needed.