l'institut du thorax, Clinique Cardiologique and Inserm, 915, CHU de Nantes, France.
J Cardiovasc Transl Res. 2011 Dec;4(6):748-56. doi: 10.1007/s12265-011-9308-9. Epub 2011 Jul 20.
Myxomatous dystrophy of the cardiac valves is a heterogeneous group of disorders, including syndromic diseases such as Marfan syndrome and isolated valvular diseases. Mitral valve prolapse, the most common form of this disease, is presumed to affect approximately 2% to 3% of the population and remains one of the most common causes of valvular surgery. During the past years, important effort has been made to better understand the pathophysiological basis of mitral valve prolapse. Autosomal-dominant transmission is the usual inheritance with reduced penetrance and variable expressivity. Three loci have been mapped to chromosomes 16p11-p12, 11p15.4 and 13q31-32, but the underlying genetic defects are not currently known. An X-linked recessive form has been originally described by Monteleone and Fagan in 1969. Starting from one large French family and three smaller other families in which MVP was transmitted with an X-linked pattern, we have been able to identify three filamin A mutations p.Gly288Arg and p.Val711Asp and a 1,944-bp genomic deletion coding for exons 16 to 19. In this review, we describe the genetic, echocardiographic and functional aspects of the filamin-A-related myxomatous mitral valve dystrophy.
心脏瓣膜黏液样变性营养不良是一组异质性疾病，包括马凡综合征等综合征性疾病和孤立性瓣膜疾病。二尖瓣脱垂是该病最常见的形式，据推测，其发病率约为 2%至 3%，仍然是瓣膜手术最常见的原因之一。在过去的几年中，人们做出了巨大的努力来更好地理解二尖瓣脱垂的病理生理基础。常染色体显性遗传伴低外显率和可变表达是常见的遗传方式。已经将三个基因座定位到染色体 16p11-p12、11p15.4 和 13q31-32，但目前尚不知道潜在的遗传缺陷。1969 年，Monteleone 和 Fagan 最初描述了一种 X 连锁隐性形式。从一个大型法国家族和另外三个较小的家族开始，这些家族中的 MVP 呈 X 连锁模式遗传，我们已经能够鉴定出三种原肌球蛋白 A 突变 p.Gly288Arg 和 p.Val711Asp 以及编码外显子 16 至 19 的 1944bp 基因组缺失。在这篇综述中，我们描述了与原肌球蛋白 A 相关的黏液样二尖瓣营养不良的遗传、超声心动图和功能方面。
