Taylor Matthew R G, Carniel Elisa, Mestroni Luisa
Adult medical Genetics Clinic, Department of Internal Medicine, UCHSC, Aurora, Colorado 80010, USA.
Expert Rev Mol Diagn. 2004 Jan;4(1):99-113. doi: 10.1586/14737159.4.1.99.
Hypertrophic cardiomyopathy is a Mendelian disease characterized by cardiac hypertrophy. It has a prevalence of 1:500 individuals and is the most common cause of sudden death in the young. Other complications include heart failure and the need for heart transplantation. Hypertrophic cardiomyopathy is due to sarcomeric gene mutations, however, phenocopies with myocardial hypertrophy can be due to triplet-repeat syndromes (Friedreich ataxia and myotonic dystrophy), mitochondrial and metabolic diseases. In a peculiar form associated with Wolf-Parkinson-White syndrome, the disease is caused by mutations in the gamma2 regulatory subunit of the AMP-activated protein kinase gene, leading to a glycogen storage cardiomyopathy. In spite of the growing knowledge about the molecular basis of hypertrophic cardiomyopathy, very little is still known about the genotype-phenotype correlations and their clinical implications. In this review, the clinical and molecular genetics of hypertrophic cardiomyopathy are described.
肥厚型心肌病是一种以心肌肥厚为特征的孟德尔疾病。其患病率为1:500，是年轻人猝死的最常见原因。其他并发症包括心力衰竭和心脏移植需求。肥厚型心肌病是由肌节基因突变引起的，然而，心肌肥厚的表型模拟可能由三联体重复综合征（弗里德赖希共济失调和强直性肌营养不良）、线粒体和代谢疾病导致。在一种与预激综合征相关的特殊形式中，该疾病由AMP激活的蛋白激酶基因的γ2调节亚基突变引起，导致糖原贮积性心肌病。尽管对肥厚型心肌病的分子基础了解越来越多，但关于基因型-表型相关性及其临床意义仍知之甚少。在本综述中，将描述肥厚型心肌病的临床和分子遗传学。
