(Circulation. 2001;104:128.)
© 2001 American Heart Association, Inc.
Brief Rapid Communications |
From the Department of Medicine, Section of Cardiology, Baylor College of Medicine, Houston, Tex, and the University of Manitoba Health Science Centre, Winnepeg, Canada (J.W.T.).
Correspondence and reprint requests to Sherif F. Nagueh, MD, Section of Cardiology, 6550 Fannin Street, SM-1246, Houston, TX 77030-2717. E-mail sherifn{at}bcm.tmc.edu
Background Left ventricular hypertrophy (LVH), the clinical hallmark of familial hypertrophic cardiomyopathy (FHCM), is absent in a significant number of subjects with causal mutations. In transgenic rabbits that fully recapitulate the FHCM phenotype, reduced myocardial tissue Doppler (TD) velocities accurately identified the mutant rabbits, even in the absence of LVH. We tested whether humans with FHCM also consistently showed reduced myocardial TD velocities, irrespective of LVH.
Methods and Results We performed 2D and Doppler echocardiography and TD imaging in 30 subjects with FHCM, 13 subjects who were positive for various mutations but did not have LVH, and 30 age- and sex-matched controls (all adults; 77% women). LV wall thickness and mass were significantly greater in FHCM subjects (P<0.01 versus those without LVH and controls). There were no significant differences in 2D echocardiographic, mitral, and pulmonary venous flow indices between mutation-positives without LVH and controls. In contrast, systolic and early diastolic TD velocities were significantly lower in both mutation-positives without LVH and in FHCM patients than in controls (P<0.001). Reduced TD velocities had a sensitivity of 100% and a specificity of 93% for identifying mutation-positives without LVH.
Conclusions Myocardial contraction and relaxation velocities, detected by TD imaging, are reduced in FHCM, including in those without LVH. Before and independently of LVH, TD imaging is an accurate and sensitive method for identifying subjects who are positive for FHCM mutations.
Key Words: cardiomyopathy genetics hypertrophy systole diastole
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S. R. Ommen and A. J. Tajik Hypertrophic Cardiomyopathy: From Bedside to Bench ... And Now Back Again? Circulation, July 10, 2001; 104(2): 126 - 127. [Full Text] [PDF] |
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C.-M. Yu, H. Lin, H. Yang, S.-L. Kong, Q. Zhang, and S. W.-L. Lee Progression of Systolic Abnormalities in Patients With "Isolated" Diastolic Heart Failure and Diastolic Dysfunction Circulation, March 12, 2002; 105(10): 1195 - 1201. [Abstract] [Full Text] [PDF] |
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