PT - JOURNAL ARTICLE AU - Luís R Lopes AU - Perry M Elliott TI - A straightforward guide to the sarcomeric basis of cardiomyopathies AID - 10.1136/heartjnl-2014-305645 DP - 2014 Dec 15 TA - Heart PG - 1916--1923 VI - 100 IP - 24 4099 - http://heart.bmj.com/content/100/24/1916.short 4100 - http://heart.bmj.com/content/100/24/1916.full SO - Heart2014 Dec 15; 100 AB - The sarcomere is the principal contractile unit of striated muscle. Mutations in genes encoding sarcomeric proteins are responsible for a range of diseases including hypertrophic, dilated and restrictive cardiomyopathies and ventricular non-compaction. The downstream molecular pathways leading to these heterogeneous phenotypes include changes in acto-myosin cross-bridge kinetics, altered mechanosensation, disturbed calcium sensitivity, de-regulated signalling pathways, inefficient energetics, myocardial ischaemia and fibrosis. The elucidation of the genetic causes of cardiomyopathy has helped in understanding the structure and function of the sarcomere and a more detailed knowledge of the sarcomere and its associated proteins has suggested additional gene candidates. The new hope is that these advances will stimulate the discovery of disease-modifying drugs.