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(Circulation. 2002;105:2934.)
© 2002 American Heart Association, Inc.

Editorial

Disrobing the Emperor (Heart) Without Destroying the Dignity of Super-Normality

Robert Roberts, MD

From the Section of Cardiology, Baylor College of Medicine, Houston, Tex.

Correspondence to Robert Roberts, MD, Don W. Chapman Professor of Medicine, Professor of Medicine and Cell Biology, Department of Medicine, Section of Cardiology, 6550 Fannin, MS SM677, Baylor College of Medicine, Houston, TX 77030. E-mail rroberts@bcm.tmc.edu

Key Words: Editorials • diagnosis • echocardiography • genetics

An extract of the first 250 words of the full text is provided, because this article has no abstract.

The familial hypertrophic heart is a hyperdynamic pump, not infrequently exhibited in the most elite of athletes, yet unexpectedly treacherous and magnificently deceptive of a defect present since its conception.

See p 2992

For an inherited disease, familial hypertrophic cardiomyopathy (FHCM) is relatively common, with an incidence of 1 in 500, and is the most common cause of sudden cardiac death in the young. All too often, sudden death is the first and only symptom in an otherwise healthy, energetic individual. Because these individuals manifest normal or supernormal ventricular function (ejection fraction 65% to 80%), it is not surprising that sudden death occurs unexpectedly and not infrequently in very fit athletes competing on a local, national, or international level. Our knowledge of the genetics of FHCM has advanced rapidly with at least 10 genes and >150 mutations identified.¹ There are several barriers to the clinical application of this knowledge, however. Multiple genes with multiple mutations make screening for a mutation in a single individual a formidable task in terms of time and cost. Thus, there is a need to develop rapid, robust, and accurate techniques for detecting mutations. Mutations are most accurately detected by DNA sequencing on a research basis that remains both too expensive and time consuming for routine clinical use. Nevertheless, in the near future, genetic screening is likely to be incorporated into medical practice. Other techniques offer promise, such as the DNA chip technology and time of flight magnetic resonance. Unfortunately, assigning risk of developing disease, even . . . [Full Text of this Article]

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