Genetic causes of human heart failure.
Factors that render patients with cardiovascular disease at high risk for heart failure remain incompletely defined. Recent insights into molecular genetic causes of myocardial diseases have highlighted the importance of single-gene defects in the pathogenesis of heart failure. Through analyses of the mechanisms by which a mutation selectively perturbs one component of cardiac physiology and triggers cell and molecular responses, studies of human gene mutations provide a window into the complex processes of cardiac remodeling and heart failure. Knowledge gleaned from these studies shows promise for defining novel therapeutic targets for genetic and acquired causes of heart failure.
Morita
Hiroyuki
H
Department of Genetics, Harvard Medical School, Division of Cardiology, Brigham and Women's Hospital, and Howard Hughes Medical Institute, Boston, Massachusetts 02115, USA.
Seidman
Jonathan
J
Seidman
Christine E
CE
D000818:Animals; D002118:Calcium / Q000378:metabolism; D002303:Cardiac Output, Low / Q000235:genetics* / Q000503:physiopathology; D002318:Cardiovascular Diseases / Q000235:genetics; D002320:Cardiovascular Physiological Phenomena; D004734:Energy Metabolism / Q000235:genetics; D005786:Gene Expression Regulation; D006801:Humans; D008928:Mitochondria / Q000235:genetics / Q000378:metabolism; D009124:Muscle Proteins / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D009206:Myocardium / Q000166:cytology / Q000378:metabolism
D009124:Muscle Proteins; D002118:Calcium