Division of Medical Genetics, Department of Pediatrics, Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
Am J Med Genet C Semin Med Genet. 2013 Aug;163C(3):141-3. doi: 10.1002/ajmg.c.31370. Epub 2013 Jul 10.
Cardiomyopathies are remarkably variable in form. Although hearts may be dilated or hypertrophic, the spectrum of cardiomyopathies includes left ventricular noncompaction/hypertrabeculation and right ventricular wall disorders. These conditions have been increasingly recognized in patients given advances in clinical diagnostics. Here we present information on cardiac pathophysiology, from ventricular wall formation and trabeculae in model organisms to pediatric and adult disease. Many genes to affect the ventricular phenotype, and this has implications for deciphering developmental and disease pathways and for applying testing for clinical care.
心肌病的表现形式多种多样。虽然心脏可能扩张或肥厚，但心肌病的范围包括左心室致密化不全/肥厚和右心室壁疾病。随着临床诊断技术的进步，这些病症在患者中越来越受到关注。在这里，我们介绍了心脏病理生理学方面的信息，从模型生物的心室壁形成和小梁开始，涵盖儿科和成人疾病。许多基因会影响心室表型，这对于解析发育和疾病途径以及为临床护理进行测试都具有重要意义。
