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[埃布斯坦畸形合并法洛四联症。关于一例家族性病例、文献复习、胚胎学及遗传学意义]

[Ebstein's disease associated with Fallot's tetralogy. Apropos of a familial case, review of the literature, embryologic and genetic implications].

作者信息

Davido A, Maarek M, Jullien J L, Corone P

出版信息

Arch Mal Coeur Vaiss. 1985 May;78(5):752-6.

PMID:3925918
Abstract

Ebstein anomaly is a rare congenital cardiac malformation, representing 0.3 p. 100 of all congenital heart disease. The authors report a case of a child with Ebstein anomaly associated with tetralogy of Fallot, whose father had an apparently simple Ebstein anomaly. The association of Ebstein-Fallot is extremely rare with only 5 previously reported cases in the literature. The association Ebstein-VSD-pulmonary stenosis is more frequent (13 cases), whilst the association Ebstein-isolated VSD (33 cases) and Ebstein-pulmonary stenosis/atresia (38 cases) are relatively common. Other very varied associations have also been described. Atrial septal defect is practically an integral part of Ebstein anomaly with an ostium secundum or patent foramen ovale in 51 to 80 p. 100 of cases. The possibility of 2 subjects in the same family with Ebstein anomaly is far from negligible. A review of the literature revealed 7 other reported "pairs". A certain number of other cases also demonstrate the association of Ebstein anomaly with another congenital cardiac malformation in the same family, usually a VSD or tetralogy of Fallot. Our familial case raises the question of a possible embryological link between Ebstein anomaly and tetralogy of Fallot. Our experimental embryological studies also suggest the presence of a common denominator between these two conditions.

摘要

埃布斯坦畸形是一种罕见的先天性心脏畸形,占所有先天性心脏病的0.3%。作者报告了一例患有埃布斯坦畸形合并法洛四联症的儿童病例,其父亲患有明显单纯的埃布斯坦畸形。埃布斯坦畸形与法洛四联症的关联极为罕见,文献中此前仅报道过5例。埃布斯坦畸形与室间隔缺损合并肺动脉狭窄的关联更为常见(13例),而埃布斯坦畸形合并孤立性室间隔缺损(33例)和埃布斯坦畸形合并肺动脉狭窄/闭锁(38例)相对常见。还描述了其他多种不同的关联情况。房间隔缺损实际上是埃布斯坦畸形的一个组成部分,在51%至80%的病例中存在继发孔型房间隔缺损或卵圆孔未闭。同一家族中有两名患有埃布斯坦畸形患者的可能性不可忽视。对文献的回顾发现了另外7例报道的“病例对”。一定数量的其他病例也证明了埃布斯坦畸形与同一家族中另一种先天性心脏畸形的关联,通常是室间隔缺损或法洛四联症。我们的家族病例引发了关于埃布斯坦畸形与法洛四联症之间可能存在胚胎学联系的问题。我们的实验胚胎学研究也表明这两种病症之间存在共同特征。

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