ASSOCIATION OF MITRAL-VALVE PROLAPSE AND SYSTEMIC ABNORMALITIES OF CONNECTIVE-TISSUE - A PHENOTYPIC CONTINUUM
ASSOCIATION OF MITRAL-VALVE PROLAPSE AND SYSTEMIC ABNORMALITIES OF CONNECTIVE-TISSUE - A PHENOTYPIC CONTINUUM
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DOI：
10.1001/jama.262.4.523
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发表时间：
1989-07-28
影响因子：
120.7
通讯作者：
PYERITZ, RE
中科院分区：
文献类型：
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作者：
GLESBY, MJ;PYERITZ, RE
在我们的临床评估的可能诊断为遗传性结缔组织疾病的所有患者中，有一半以上无法在当前疾病分类学中分类，但他们有相当多的细胞外基质系统性缺陷的临床证据。作为一个群体，这些患者具有马凡氏综合征的许多表现，包括四肢过长、胸廓畸形、萎缩纹、二尖瓣脱垂和主动脉根轻度扩张。当患者按二尖瓣脱垂或主动脉瓣扩张分层时，没有出现临床聚集。二尖瓣脱垂患者的临床表型构成了一个连续体，从马凡综合征的一个极端到由于瓣叶粘液瘤性增生引起的孤立性二尖瓣脱垂。在缺乏生化或DNA标记的情况下，辨别二尖瓣脱垂和轻度主动脉根部扩张（没有晶状体异位或家族史）的患者是否患有马凡综合征或其他遗传性结缔组织疾病，将继续是一个临床挑战。在基于精细的临床、遗传和实验室研究的亚分类成为可能之前，我们描述的患者最好被视为患有“重叠”遗传性结缔组织疾病。我们建议首字母缩略词“MASS表型”强调二尖瓣，主动脉，骨骼和皮肤的参与。
More than half of all patients evaluated in our clinic for the possible diagnosis of a heritable disorder of connective tissue could not be classified in the current nosology, yet they had considerable clinical evidence of a systemic defect of the extracellular matrix. As a group, these patients share many manifestations of the Marfan syndrome including long limbs, deformity of the thoracic cage, striae atrophicae, mitral valve prolapse, and mild dilatation of the aortic root. Clinical clustering did not emerge when patients were stratified by mitral valve prolapse or aortic dilatation. The clinical phenotype of patients with mitral valve prolapse constitutes a continuum, for Marfan syndrome at one extreme to isolated mitral valve prolapse due to myxomatous proliferation of the valve leaflets. In the absence of biochemical or DNA markers, discerning whether a patient with mitral valve prolapse and mild aortic root dilatation (in the absence of ectopia lentis or a family history) has Marfan syndrome, or another heritable disorder of connective tissue, will continue to be a clinical challenge. Until subclassification based on refined clinical, genetic, and laboratory investigations is possible, the patients we describe are best seen as having an "overlap" heritable connective-tissue disorder. We suggest the acronym "MASS phenotype" to emphasize involvement of the mitral valve, aorta, skeleton, and skin.