Zachara E, Bertini E, Lioy E, Boldrini R, Prati P L, Bosman C
I Division of Cardiology, St Camillo Hospital, Roma.
G Ital Cardiol. 1997 May;27(5):436-42.
A familial case of restrictive cardiomyopathy due to desmin accumulation characterized by severe disturbances of cardiac conduction is described.
Desmin is an intermediate filament normally present in the myocardium, particularly in the Purkinje fibres, in the skeletal and in the smooth muscle.
Resting electrocardiogram, 2-dimensional and Doppler echocardiogram, cardiac catheterization, electrophysiological study have been performed in all siblings. Informed consent for endomyocardial biopsy was obtained only in one patient.
The mother showed bilateral pes cavus and complained of episodes of vertigo at the age of 36 years. At that time she was submitted to electrophysiological study and to permanent pacing. After 15 years of good health conditions, she developed heart failure and underwent cardiac transplantation. A 21 year old son had a syncope; his ECG was similar to that of his mother; a permanent pacemaker was implanted and a diagnosis of restrictive cardiomyopathy with desmin accumulation was confirmed at histopathology study. Afterwards, another 24 year old sib had a syncope with head trauma: ECG showed right atrial enlargement, left bundle branch block. After electrophysiological study, he started antiarrhythmic therapy. This patient showed bilateral pes cavus.
The early manifestation of desmin accumulation may be intraventricular conduction disorders that can be often controlled by pacemaker implantation. Clinical symptoms of heart failure may be absent for a long period of time. Pedigree analysis is most consistent of autosomal dominant inheritance.
描述一例因结蛋白蓄积导致的限制性心肌病家族病例，其特征为严重的心脏传导紊乱。
结蛋白是一种中间丝，正常存在于心肌中，特别是在浦肯野纤维、骨骼肌和平滑肌中。
对所有兄弟姐妹进行了静息心电图、二维和多普勒超声心动图、心导管检查及电生理研究。仅对一名患者进行了心内膜心肌活检并获得知情同意。
母亲36岁时出现双侧高弓足，并伴有眩晕发作。当时她接受了电生理研究并植入了永久性起搏器。在健康状况良好的15年后，她出现了心力衰竭并接受了心脏移植。一名21岁的儿子发生了晕厥；他的心电图与母亲相似；植入了永久性起搏器，组织病理学研究证实诊断为伴有结蛋白蓄积的限制性心肌病。此后，另一名24岁的兄弟姐妹发生了晕厥并伴有头部外伤：心电图显示右心房扩大、左束支传导阻滞。电生理研究后，他开始接受抗心律失常治疗。该患者也表现出双侧高弓足。
结蛋白蓄积的早期表现可能是室内传导障碍，通常可通过植入起搏器进行控制。心力衰竭的临床症状可能长期不存在。系谱分析最符合常染色体显性遗传。
