Thierfelder L
Max-Delbrück-Centrum für Molekulare Medizin und Franz-Volhard-Klinik, Humboldt-Univesität zu Berlin, Berlin-Buch.
Z Kardiol. 2000 Jul;89(7):638-40. doi: 10.1007/s003920070215.
Cardiomyopathies comprise a heterogeneous group of primary heart muscle disorders with a strong genetic component. Nearly all cases of hypertrophic cardiomyopathy and at least 20-30% of cases with dilated cardiomyopathy are due to autosomal dominant mutations. The extent of genetic factors for arrhythmogenic right ventricular and restrictive cardiomyopathy is less clear. Recent studies have demonstrated that genetic causes of all cardiomyopathies are highly heterogeneous with more than 25 disease gene loci. Although the ability to diagnose cardiomyopathies at the molecular level has advanced, our understanding of disease pathways and the knowledge of individual diseases causing mutations has had little impact on the clinical management of patients. Once current technical limitations for large-scale mutation analysis are overcome, broad genotype/phenotype correlation studies may answer important clinical issues such as the precise relation between distinct mutations and the risk of sudden death, course of the disease and treatment of patients.
心肌病是一组异质性的原发性心肌疾病，具有很强的遗传成分。几乎所有肥厚型心肌病病例以及至少20%-30%的扩张型心肌病病例都归因于常染色体显性突变。致心律失常性右室心肌病和限制型心肌病的遗传因素程度尚不清楚。最近的研究表明，所有心肌病的遗传病因高度异质，涉及25个以上的疾病基因位点。尽管在分子水平上诊断心肌病的能力已有进展，但我们对疾病途径的理解以及对导致突变的个体疾病的了解对患者的临床管理影响甚微。一旦克服了大规模突变分析的当前技术限制，广泛的基因型/表型相关性研究可能会回答重要的临床问题，如不同突变与猝死风险、疾病进程及患者治疗之间的确切关系。
