Pernot C, Worms A M, Marçon F, Ménard O, Nassi C, Floquet J
Service de cardiologie infantile, CHU de Nancy-Brabois, Vandoeuvre-lès-Nancy.
Arch Mal Coeur Vaiss. 1989 May;82(5):797-801.
The authors report the case of a neonate who died early of refractory heart failure and presented with all the characteristics of Marfan's syndrome in its early form with articular retractions. There was clinical evidence of mitral, tricuspid and major aortic regurgitation. Two-dimensional and doppler echocardiography confirmed the prolapse of highly dystrophic valves and the quadrivalvar regurgitation. Typical lesions of the connective-elastic tissue were found at autopsy. The occurrence of malignant Marfan's syndrome in neonates seems to be exceptional; the syndrome may take the rare "en contractures" form. Death is not always ascribable to the cardiac pathology, this pathology being often less generalized than in our case which seems to be the first one where such diffuse and massive valval lesions have been observed. This particular form was comparable to the "congenital polyvalvular disease" described by Bahrati and Lev, except that the skeletal and visceral abnormalities of Marfan's syndrome are absent in that disease.
作者报告了一例新生儿病例，该新生儿因难治性心力衰竭早夭，呈现出早期马凡综合征的所有特征，伴有关节挛缩。有二尖瓣、三尖瓣和主动脉重度反流的临床证据。二维及多普勒超声心动图证实高度营养不良瓣膜脱垂及四瓣膜反流。尸检发现了结缔组织弹性组织的典型病变。新生儿期发生恶性马凡综合征似乎很罕见；该综合征可能呈现罕见的“挛缩”形式。死亡并不总是归因于心脏病变，这种病变通常不像我们这个病例那样广泛，在我们这个病例中似乎是首次观察到如此弥漫性和广泛性的瓣膜病变。这种特殊形式类似于Bahrati和Lev所描述的“先天性多瓣膜病”，不同的是该疾病不存在马凡综合征的骨骼和内脏异常。
