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Circulation. 2001;104:128-130

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(Circulation. 2001;104:128.)
© 2001 American Heart Association, Inc.


Brief Rapid Communications

Tissue Doppler Imaging Consistently Detects Myocardial Abnormalities in Patients With Hypertrophic Cardiomyopathy and Provides a Novel Means for an Early Diagnosis Before and Independently of Hypertrophy

Sherif F. Nagueh, MD; Linda L. Bachinski, PhD; Denise Meyer, MT; Rita Hill, RN; William A. Zoghbi, MD; James W. Tam, MD; Miguel A. Quiñones, MD; Robert Roberts, MD; A.J. Marian, MD

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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CirculationHome page
M. Pieroni, C. Chimenti, R. Ricci, P. Sale, M. A. Russo, and A. Frustaci
Early Detection of Fabry Cardiomyopathy by Tissue Doppler Imaging
Circulation, April 22, 2003; 107(15): 1978 - 1984.
[Abstract] [Full Text] [PDF]


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CirculationHome page
C. Geier, A. Perrot, C. Ozcelik, P. Binner, D. Counsell, K. Hoffmann, B. Pilz, Y. Martiniak, K. Gehmlich, P. F.M. van der Ven, et al.
Mutations in the Human Muscle LIM Protein Gene in Families With Hypertrophic Cardiomyopathy
Circulation, March 18, 2003; 107(10): 1390 - 1395.
[Abstract] [Full Text] [PDF]


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Cardiovasc ResHome page
O. Havndrup, H. Bundgaard, P. Skytt Andersen, L. Allan Larsen, J. Vuust, K. Kjeldsen, and M. Christiansen
Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac {beta}-myosin gene mutations
Cardiovasc Res, February 1, 2003; 57(2): 347 - 357.
[Abstract] [Full Text] [PDF]


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J Am Coll CardiolHome page
L. Choudhury, H. Mahrholdt, A. Wagner, K. M. Choi, M. D. Elliott, F. J. Klocke, R. O. Bonow, R. M. Judd, and R. J. Kim
Myocardial scarring in asymptomatic or mildly symptomatic patients with hypertrophic cardiomyopathy
J. Am. Coll. Cardiol., December 18, 2002; 40(12): 2156 - 2164.
[Abstract] [Full Text] [PDF]


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DiabetesHome page
A. Hansen, B.-L. Johansson, J. Wahren, and H. von Bibra
C-Peptide Exerts Beneficial Effects on Myocardial Blood Flow and Function in Patients With Type 1 Diabetes
Diabetes, October 1, 2002; 51(10): 3077 - 3082.
[Abstract] [Full Text] [PDF]


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J. Med. Genet.Home page
P Charron, D Heron, M Gargiulo, P Richard, O Dubourg, M Desnos, J-B Bouhour, J Feingold, L Carrier, B Hainque, et al.
Genetic testing and genetic counselling in hypertrophic cardiomyopathy: the French experience
J. Med. Genet., October 1, 2002; 39(10): 741 - 746.
[Abstract] [Full Text] [PDF]


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CirculationHome page
R. Roberts
Disrobing the Emperor (Heart) Without Destroying the Dignity of Super-Normality
Circulation, June 25, 2002; 105(25): 2934 - 2936.
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CirculationHome page
C. Y. Ho, N. K. Sweitzer, B. McDonough, B. J. Maron, S. A. Casey, J.G. Seidman, C. E. Seidman, and S. D. Solomon
Assessment of Diastolic Function With Doppler Tissue Imaging to Predict Genotype in Preclinical Hypertrophic Cardiomyopathy
Circulation, June 25, 2002; 105(25): 2992 - 2997.
[Abstract] [Full Text] [PDF]


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JAMAHome page
B. J. Maron
Hypertrophic Cardiomyopathy: A Systematic Review
JAMA, March 13, 2002; 287(10): 1308 - 1320.
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CirculationHome page
H. Ashrafian, H. Watkins, S. F. Nagueh, L. L. Bachinski, D. Meyer, R. Hill, W. A. Zoghbi, J. W. Tam, M. A. Quinones, R. Roberts, et al.
Myocardial Dysfunction in Hypertrophic Cardiomyopathy Response
Circulation, December 18, 2001; 104 (25): e165 - e165.
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CirculationHome page
R. Patel, S. F. Nagueh, N. Tsybouleva, M. Abdellatif, S. Lutucuta, H. A. Kopelen, M. A. Quinones, W. A. Zoghbi, M. L. Entman, R. Roberts, et al.
Simvastatin Induces Regression of Cardiac Hypertrophy and Fibrosis and Improves Cardiac Function in a Transgenic Rabbit Model of Human Hypertrophic Cardiomyopathy
Circulation, July 17, 2001; 104(3): 317 - 324.
[Abstract] [Full Text] [PDF]


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CirculationHome page
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.
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CirculationHome page
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]