Controversies, genetics, diagnostic assessment, and outcomes relating to the heterotaxy syndrome
Controversies, genetics, diagnostic assessment, and outcomes relating to the heterotaxy syndrome
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DOI：
10.1017/s104795110700114x
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发表时间：
2007-09-01
影响因子：
1
通讯作者：
Weinberg, Paul M.
中科院分区：
文献类型：
--
作者：
Cohen, Meryl S.;Anderson, Robert H.;Weinberg, Paul M.
如何最好地分析和描述通常被称为“内脏异位”的情况的特征仍然存在争议。分歧主要集中在如何处理同分异构的概念上。在一些人看来，双侧右侧和双侧左侧的概念，虽然有助于记住在脾功能不全或多脾中可能发生的异常，但不应被赋予特定“位置”的地位，因为这些模式有许多例外的例子。另一方面,那些支持异构的概念指出,当描述只有心脏,和心房附件的结构作为分析的起点,这基于梳状的肌肉的程度相对于房室连接,那么唯一可能的安排通常的一个附属物,其镜像和附件的两种情况比较形态学发现两边的心,这些是左右同分异构体的排列。当然，器官的排列并不总是与心房附件的排列相协调，但那些不协调的情况，可以很容易地通过对每一系列器官的特别注意来描述。在此基础上，在这篇综述中，我们从遗传背景、诊断和心脏手术后的结果等方面描述了心房附件异位和异构体的方法。关注各种诊断方式，包括胎儿和产后超声心动图，最近的断层扫描和磁共振成像技术，以及使用血管造影术的历史悠久的方法。
How best to analyse and describe the features of the situation commonly known as "visceral heterotaxy" remains controversial. Much of the disagreement devolves on how to deal with the concept of isomerism. In the opinion of some, the concept of bilateral right-sidedness and bilateral left-sidedness, while useful in helping to remember which abnormalities are likely to occur in asplenia or polysplenia, should not be granted the status of a specific "situs", since there are numerous examples of exceptions to these patterns. On the other hand, those who favour the concept of isomerism point out that, when describing only the heart, and taking the structure of the atrial appendages as the starting point for analysis, basing this on the extent of the pectinate muscles relative to the atrioventricular junctions, then the only possible arrangements for the appendages are the usual one, its mirror-image, and the two situations in which appendages of comparable morphology are found on both sides of the heart, these being the arrangements of right or left isomerism. It is certainly the case that the arrangement of the organs is not always in harmony with the arrangement of the atrial appendages, but those circumstances, in which there is disharmony, can readily be described by paying specific attention to each series of organs. On this basis, in this review, we describe the approach to heterotaxy, and isomerism of the atrial appendages, in terms of the genetic background, the diagnosis, and outcomes after cardiac surgery. Attention is given to the various diagnostic modalities, including fetal and postnatal echocardiography, recent tomographic and magnetic resonance imaging techniques, and the time-honoured approach using angiography.