Seidman C E, Seidman J G
Cardiovascular Division, Brigham and Women's Hospital, Boston, MA 02115.
Mol Biol Med. 1991 Apr;8(2):159-66.
Familial Hypertrophic Cardiomyopathy (FHC) is a genetically inherited disorder of heart muscle. Over the past 40 years many studies have been done to describe in detail the clinical presentation of this disease and its associated pathophysiological consequences. The primary focus of this review is to discuss more recent studies involving the genetic mapping of one locus on chromosome 14, which causes FHC, and then to summarize studies demonstrating that this locus contains mutations in the cardiac myosin heavy chain genes. The chromosomal location of other putative FHC loci will also be considered. Finally, the implications of results that demonstrate that cardiac myosin heavy chain defects produce the pathophysiology of FHC will be considered from both clinical and basic research perspectives.
家族性肥厚型心肌病（FHC）是一种遗传性心肌疾病。在过去40年里，人们进行了许多研究，详细描述了这种疾病的临床表现及其相关的病理生理后果。本综述的主要重点是讨论最近关于14号染色体上一个导致FHC的位点的基因定位研究，然后总结表明该位点包含心肌肌球蛋白重链基因突变的研究。其他假定的FHC位点的染色体定位也将被考虑。最后，将从临床和基础研究的角度考虑表明心肌肌球蛋白重链缺陷产生FHC病理生理的结果的意义。
