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(Circulation. 1999;99:1397-1399.)
© 1999 American Heart Association, Inc.

Editorials

AMPD1 Gene Mutation in Congestive Heart Failure

New Insights Into the Pathobiology of Disease Progression

Arthur M. Feldman, MD, PhD; Daniel R. Wagner, MD; Dennis M. McNamara, MD

From The Cardiovascular Institute of the UPMC Health System, Pittsburgh, Pa.

Correspondence to Arthur M. Feldman, MD, PhD, The Cardiovascular Institute of the UPMC Health System, 200 Lothrop St, S-572 Scaife Hall, Pittsburgh, PA 15213. E-mail feldmanam@msx.upmc.edu

Key Words: Editorials • genes • heart failure • transplantation

In the late 19th century, Sir William Osler noted that patients with myocardial damage due to valvular heart disease had a highly variable clinical course. Some patients remained free of symptoms for a relatively prolonged period of time, whereas others rapidly decompensated.¹ More recently, the presence of cardiac dilatation has been found to be a robust predictor of the development of symptomatic congestive heart failure.² However, in large populations of patients with asymptomatic and nonischemic myocardial dilatation, only a relatively modest percentage developed symptomatic congestive failure during 11 years of follow-up.² This marked variability in the progression of disease in different individuals led investigators to suspect that these differences might be attributable to variations in genetic background. This hypothesis was further supported by recent evidence suggesting that (1) dilated cardiomyopathy is familial in a larger percentage of cases than was originally recognized,³ (2) specific loci are associated with adult-onset autosomal dominant dilated cardiomyopathy,⁴ and (3) mutations affecting cytoskeletal proteins are associated with the development of dilated cardiomyopathy.⁵ However, investigators have not found molecular markers that would predict the development of congestive heart failure in the general population, nor have they identified genetic determinants that might affect the progression of the disease in individual patients.

In this issue of Circulation, Loh and colleagues⁶ provide the first evidence of a correlation between the presence of a genetic marker and the progression of heart failure in patients with dilated cardiomyopathies. Patients having a relatively common mutation in at least 1 allele of . . . [Full Text of this Article]

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