Phenotypic spectrum and patterns of left ventricular hypertrophy in hypertrophic cardiomyopathy: morphologic observations and significance as assessed by two-dimensional echocardiography in 600 patients

Department of Cardiology, University Hospital Rheinisch-Westfalische Technische Hochschule, Aachen, Germany.

OBJECTIVES. This study sought to achieve an understanding of the true structural heterogeneity of hypertrophic cardiomyopathy. BACKGROUND. The diversity and clinical significance of the morphologic expression of hypertrophic cardiomyopathy have not been fully defined within this broad disease spectrum. METHODS. Patterns of left ventricular hypertrophy were characterized by two-dimensional echocardiography in a large study cohort of 600 patients (7 to 79 years old, mean age 45; 393 [66%] men) consecutively studied at two referral centers. RESULTS. Left ventricular wall thickness was 15 to 52 mm (mean [+/- SD] 22.3 +/- 5). A multitude of patterns of asymmetric left ventricular hypertrophy were identified, with the most common showing diffuse involvement of substantial portions of both ventricular septum and free wall. Of 16 possible patterns of left ventricular hypertrophy, 12 (78%) were identified among the 600 patients. Hypertrophy most commonly involved two left ventricular segments (228 patients [38%]) or three or more segments (202 patients [34%]), but was also localized to one segment in a substantial number of patients (170 [28%]). The anterior portion of the ventricular septum was the region of the left ventricle that most frequently showed thickening (573 patients [96%]), and was also the predominant site of hypertrophy in most patients (492 patients [83%]). Patterns of wall thickening that were either concentric (i.e., symmetric) or confined to the apex were particularly uncommon (in 1% each). CONCLUSIONS. 1) In hypertrophic cardiomyopathy, the distribution of left ventricular hypertrophy is characteristically asymmetric and particularly heterogeneous, encompassing most possible patterns of wall thickening, from extensive and diffuse to mild and segmental, and with no single morphologic expression considered typical or classic. 2) A greater extent of left ventricular hypertrophy was associated with younger age and more marked mitral valve systolic anterior motion and outflow obstruction but showed no relation to either magnitude of symptoms or gender.

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				R. E. Welikson, S. H. Buck, J. R. Patel, R. L. Moss, K. L. Vikstrom, S. M. Factor, S. Miyata, H. D. Weinberger, and L. A. Leinwand Cardiac myosin heavy chains lacking the light chain binding domain cause hypertrophic cardiomyopathy in mice Am J Physiol Heart Circ Physiol, June 1, 1999; 276(6): H2148 - H2158. [Abstract] [Full Text] [PDF]

				B. J. Maron, R. Mathenge, S. A. Casey, L. C. Poliac, and T. F. Longe Clinical profile of hypertrophic cardiomyopathy identified de novo in rural communities J. Am. Coll. Cardiol., May 1, 1999; 33(6): 1590 - 1595. [Abstract] [Full Text] [PDF]

				B. J. Maron, S. A. Casey, L. C. Poliac, T. E. Gohman, A. K. Almquist, and D. M. Aeppli Clinical Course of Hypertrophic Cardiomyopathy in a Regional United States Cohort JAMA, February 17, 1999; 281(7): 650 - 655. [Abstract] [Full Text] [PDF]

				F. C. Basilico Cardiovascular Disease in Athletes Am. J. Sports Med., January 1, 1999; 27(1): 108 - 121. [Abstract] [Full Text] [PDF]

				A. P. R. M. Osterop, M. J. M. Kofflard, L. A. Sandkuijl, F. J. t. Cate, R. Krams, M. A. D. H. Schalekamp, and A. H. J. Danser AT1 Receptor A/C1166 Polymorphism Contributes to Cardiac Hypertrophy in Subjects With Hypertrophic Cardiomyopathy Hypertension, November 1, 1998; 32(5): 825 - 830. [Abstract] [Full Text] [PDF]

				B. J. Maron, J. H. Moller, C. E. Seidman, G. M. Vincent, H. C. Dietz, A. J. Moss, J. A. Towbin, H. M. Sondheimer, R. E. Pyeritz, G. McGee, et al. Impact of Laboratory Molecular Diagnosis on Contemporary Diagnostic Criteria for Genetically Transmitted Cardiovascular Diseases: Hypertrophic Cardiomyopathy, Long-QT Syndrome, and Marfan Syndrome : A Statement for Healthcare Professionals From the Councils on Clinical Cardiology, Cardiovascular Disease in the Young, and Basic Science, American Heart Association Circulation, October 6, 1998; 98(14): 1460 - 1471. [Full Text] [PDF]

				G. Bonne, L. Carrier, P. Richard, B. Hainque, and K. Schwartz Familial Hypertrophic Cardiomyopathy : From Mutations to Functional Defects Circ. Res., September 21, 1998; 83(6): 580 - 593. [Abstract] [Full Text] [PDF]

				R. Anan, H. Shono, A. Kisanuki, S. Arima, S. Nakao, and H. Tanaka Patients With Familial Hypertrophic Cardiomyopathy Caused by a Phe110Ile Missense Mutation in the Cardiac Troponin T Gene Have Variable Cardiac Morphologies and a Favorable Prognosis Circulation, August 4, 1998; 98(5): 391 - 397. [Abstract] [Full Text] [PDF]

				P. P. Dimitrow, D. Czarnecka, K. K. Jaszcz, and J. S. Dubiel Comparison of Left Ventricular Hypertrophy Expression in Patients with Hypertrophic Cardiomyopathy on the Basis of Sex European Journal of Cardiovascular Prevention & Rehabilitation, April 1, 1998; 5(2): 85 - 87. [Abstract] [PDF]

				P. Charron, O. Dubourg, M. Desnos, R. Isnard, A. Hagege, A. Millaire, L. Carrier, G. Bonne, F. Tesson, P. Richard, et al. Diagnostic Value of Electrocardiography and Echocardiography for Familial Hypertrophic Cardiomyopathy in a Genotyped Adult Population Circulation, July 1, 1997; 96(1): 214 - 219. [Abstract] [Full Text]

				B. J. Maron, P. D. Thompson, J. C. Puffer, C. A. McGrew, W. B. Strong, P. S. Douglas, L. T. Clark, M. J. Mitten, M. H. Crawford, D. L. Atkins, et al. Cardiovascular Preparticipation Screening of Competitive Athletes: A Statement for Health Professionals From the Sudden Death Committee (Clinical Cardiology) and Congenital Cardiac Defects Committee (Cardiovascular Disease in the Young), American Heart Association Circulation, August 15, 1996; 94(4): 850 - 856. [Full Text]

				B. J. Maron, J. Shirani, L. C. Poliac, R. Mathenge, W. C. Roberts, and F. O. Mueller Sudden Death in Young Competitive Athletes: Clinical, Demographic, and Pathological Profiles JAMA, July 17, 1996; 276(3): 199 - 204. [Abstract] [PDF]

				A. Pelliccia, B. J. Maron, F. Culasso, A. Spataro, and G. Caselli Athlete's Heart in Women: Echocardiographic Characterization of Highly Trained Elite Female Athletes JAMA, July 17, 1996; 276(3): 211 - 215. [Abstract] [PDF]