Edouard Thomas, Prost-Squarcioni Catherine, Dulac Yves, Vaysse Frédéric, Cavé Hélène, Saugier-Veber Pascale, Bourrouillou Georges, Verloes Alain, Tauber Maithé, Bieth Eric
Department of Endocrinology, Children's University Hospital, 330 Avenue de Grande Bretagne, Toulouse cedex 9, France.
Eur J Med Genet. 2010 Jan-Feb;53(1):29-34. doi: 10.1016/j.ejmg.2009.11.002. Epub 2009 Nov 20.
Polyvalvular heart disease has been reported in a handful of "private" syndromes that have been recently suggested to represent a single dominantly inherited condition, the polyvalvular heart disease syndrome. We report five cases in two unrelated families (one sporadic case in the first family and three siblings and their father in the second family) with the same association of polyvalvular heart disease, distinctive facial appearance, and, except the father in family 2, major joint hypermobility. Interestingly, in three of our patients (2 siblings and the sporadic case), electron microscopy revealed characteristic ultrastructural skin abnormalities with abnormal amorphous or microfibrillar deposits under the capillary basal membrane in the papillary dermis, suggestive of a connective tissue disorder, but different from Marfan syndrome or Ehlers-Danlos syndrome. Moreover, in family 2, three others sibs died in early infancy of their heart defect. Our two families and the other published cases might illustrate intrafamilial and interfamilial variability within a single condition. However, our two families disclose major joint hypermobility, normal stature, and ultrastructural skin abnormalities that were not described in the previous reports. These discrepancies let us to consider them as affected by a distinct disorder of the connective tissue.
多瓣膜性心脏病已在一些“特殊”综合征中被报道，这些综合征最近被认为代表一种单一的显性遗传疾病，即多瓣膜性心脏病综合征。我们报告了两个无关家族中的5例病例（第一个家族中有1例散发病例，第二个家族中有3例兄弟姐妹及其父亲），他们都患有多瓣膜性心脏病，伴有独特的面部外观，并且除了家族2中的父亲外，都有明显的关节活动过度。有趣的是，在我们的3例患者（2例兄弟姐妹和1例散发病例）中，电子显微镜检查发现了特征性的超微结构皮肤异常，在乳头真皮层的毛细血管基底膜下有异常的无定形或微纤维沉积物，提示存在结缔组织疾病，但不同于马凡综合征或埃勒斯-当洛综合征。此外，在家族2中，另外3例兄弟姐妹在婴儿早期死于心脏缺陷。我们的两个家族以及其他已发表的病例可能说明了单一疾病在家族内和家族间的变异性。然而，我们的两个家族表现出明显的关节活动过度、正常身高以及超微结构皮肤异常，这些在之前的报告中并未描述。这些差异使我们认为他们受到一种独特的结缔组织疾病的影响。
