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(Circulation. 2000;102:IV-34.)
© 2000 American Heart Association, Inc.

Special Anniversary Issue

Myocardial Diseases

Robert Roberts, MD; Ketty Schwartz

From the Department of Medicine, Baylor College of Medicine, Houston, Tex.

Correspondence to Robert Roberts, MD, Department of Medicine, Baylor College of Medicine, 6550 Fannin, MS SM-677, Houston, TX 77030

Key Words: genetics • cardiomyopathies • hypertrophy

As we enter into the new millennium, the aura of molecular genetics conjures up an exciting and challenging future for the cardiologist. The prospects for improvement in the diagnosis, prevention, and treatment of cardiovascular disease are limited only by our present knowledge and imagination. Speculations on the future aside, 2 major scientific feats have already affected cardiology in the past decade and will continue to do so in the next century: the Human Genome Project, which is nearing completion, and the ongoing intense effort to identify genes responsible for cardiovascular function and disease. Cardiac myocytes react to physiological and pathological stimuli with a growth response that leads to an increase in sarcomeres generated in parallel, giving rise to hypertrophy or, in sequence, giving rise to dilatation, or the combination thereof. Insights fundamental to ultimate elucidation of this growth process are hoped to be gleaned from understanding nature’s errors (inherited disorders) that represent a paradigm of hypertrophy or dilatation. There have been several surprises, namely, the hypertrophy of familial hypertrophic cardiomyopathy (FHCM) being a compensatory response to defects in sarcomeric structural protein, whereas dilated cardiomyopathy (DCM) appears to be an impaired growth response due to defects in cytoskeletal proteins, including the laminae of the nuclear envelope. The genetic revolution provides the engines of ingenuity to achieve even greater progress in the imminent and distant future.

FHCM as a Paradigm for Elucidating the Left Ventricular Hypertrophic Growth Response to Physiological and Pathological Stimuli

Molecular Basis and Pathogenesis of Hypertrophy in FHCM
Discovery of the first gene responsible for FHCM in 1990¹ was exciting, but that it encoded ß-myosin heavy chain (ß-MHC), a sarcomeric protein, was unexpected. Because . . . [Full Text of this Article]