Sen-Chowdhry Srijita, McKenna William J
Inherited Cardiovascular Disease Group, Institute of Cardiovascular Science, University College London , UK.
Cell Commun Adhes. 2014 Feb;21(1):3-11. doi: 10.3109/15419061.2013.876415.
The classic cardiocutaneous syndromes of Naxos and Carvajal are rare. The myocardial disorder integral to their pathology - arrhythmogenic cardiomyopathy - is arguably not uncommon, with a prevalence of up to 1 in 1,000 despite almost certain under-recognition. Yet the study of cardiocutaneous syndromes has been integral to evolution of the contemporary perspective of arrhythmogenic cardiomyopathy - its clinical course, disease spectrum, genetics, and cellular and molecular mechanisms. Here we discuss how recognition of the association of hair and skin abnormalities with underlying heart disease transformed our conception of a little-understood but important cause of sudden cardiac death.
纳克索斯病和卡瓦哈尔综合征这两种典型的心皮综合征较为罕见。其病理过程中不可或缺的心肌疾病——致心律失常性心肌病——虽说可能并不罕见，尽管几乎肯定存在认识不足的情况，但患病率高达千分之一。然而，心皮综合征的研究一直是当代对致心律失常性心肌病的认识发展的重要组成部分——包括其临床病程、疾病谱、遗传学以及细胞和分子机制。在此，我们将探讨毛发和皮肤异常与潜在心脏病之间关联的认识如何改变了我们对一种了解较少但却是心脏性猝死重要原因的疾病的看法。
