Marfan syndrome: 30 years of research equals 30 years of additional life expectancy
Marfan syndrome: 30 years of research equals 30 years of additional life expectancy
复制标题
马凡氏综合症：30 年的研究等于 30 年的额外预期寿命
作者：
R. Pyeritz
临床医生应该关注任何疾病的两个特征：自然病史和临床病史。前者由通常在没有管理的情况下出现的表现和结果来定义。后者是疾病的过程，当卫生专业人员甚至患者自己干预时。这些概念在许多方面显然是相互关联的。这种相互关系的一个具有挑战性的方面来自于临床病史的改善：随着患者寿命的延长，这种疾病的“新”、与年龄相关的特征出现。
马凡综合征(MFS)很好地说明了这些概念。这种常染色体显性遗传性结缔组织疾病并不罕见--患病率为几千人中有一人--并主要累及心血管。1 2房室瓣粘液瘤恶化导致大多数患者脱垂，部分患者出现中度反流或更严重。心律失常是常见的。3扩张型心肌病在某些情况下发生。最具特点和最麻烦的特征是主动脉根部扩张，易发生夹层和猝死，以及由于连合伸展导致的慢性主动脉瓣反流。其他器官系统和组织受到影响，特别是骨骼、眼睛、肺和硬脑膜。1随着患者寿命的延长，其他器官的受累变得越来越明显。
作为自然历史的一个重要方面，MFS很少对预期寿命进行良好的研究，而且这些研究有局限性。20世纪70年代初发表的这项最好的研究回顾了那些没有从心血管疾病的任何有效内科或外科治疗中受益的患者的记录。5平均死亡年龄在第四和第五年，几乎总是死于主动脉或二尖瓣返流或急性夹层所致的心力衰竭。回过头来看，较轻的MFS病例很可能没有被确定，而一些较严重的病例可能患有异质性疾病…。
Clinicians should focus on two characteristics of any disorder: natural history and clinical history. The former is defined by manifestations and outcomes that typically occur in the absence of management. The latter is the course of the disease when health professionals and even patients themselves intervene. The concepts are clearly related in a number of ways. One challenging aspect of this inter-relationship results from improved clinical history: as patients live longer, “new”, age-dependent features of the disease emerge.
These concepts are well illustrated by Marfan syndrome (MFS). This autosomal dominant heritable disorder of connective tissue is not rare—with a prevalence of one in a few thousand—and has major cardiovascular involvement.1 2 Myxomatous deterioration of the atrioventricular valves leads to prolapse in the majority and moderate regurgitation or worse in some. Dysrrhythmia is common.3 A dilated cardiomyopathy occurs in some. The most characteristic and troublesome feature is dilatation of the aortic root, which predisposes to dissection and sudden death, and to chronic aortic regurgitation owing to stretching of the commissures. Other organ systems and tissues are affected, especially the skeleton, eye, lung and dura.1 As patients are living longer, involvement of other organs is becoming evident.4
Few good studies of life expectancy, one important aspect of natural history, have been performed in MFS, and they have limitations. The best study, published in the early 1970s, retrospectively examined records of patients who did not benefit from any effective medical or surgical treatment of their cardiovascular disease.5 The average age of death was in the fourth and fifth decades, almost always from heart failure from aortic or mitral regurgitation or from acute dissection. In retrospect it is likely that milder cases of MFS were not ascertained, and some of the more severe cases may have had heterogeneous disorders …
登录
查看更多内容
影响因子：
158.5
作者：
Gott, VL;Greene, PS;Pyeritz, RE
通讯作者：
Pyeritz, RE
影响因子：
158.5
作者：
SHORES, J;BERGER, KR;PYERITZ, RE
通讯作者：
PYERITZ, RE
影响因子：
9.8
作者：
Rossiter,JP;Repke,JT;Morales,AJ;Murphy,EA;Pyeritz,RE
通讯作者：
Pyeritz,RE
马凡综合征患者的二尖瓣手术。
DOI：
--
发表时间：
1994
期刊：
The Journal of thoracic and cardiovascular surgery
影响因子：
--
作者：
Gillinov,AM;Hulyalkar,A;Cameron,DE;Cho,PW;Greene,PS;Reitz,BA;Pyeritz,RE;Gott,VL
通讯作者：
Gott,VL
马凡综合征的二尖瓣功能障碍。
DOI：
10.1016/0002-9343(83)91070-7
发表时间：
1983
期刊：
The American journal of medicine
影响因子：
--
作者：
Pyeritz,RE;Wappel,MA
通讯作者：
Wappel,MA