Copyright © 1998 by the European Society of Cardiology.
Familial hypertrophic cardiomyopathy. Cardiac ultrasonic abnormalities in genetically affected subjects without echocardiographic evidence of left ventricular hypertrophy
a Service de Cardiologie, Hôpital Boucicaut
Faculté de Médecine Necker-Enfant Malades
b Service de Cardiologie, Hôpital Ambroise-Paré, Boulogne
d INSERM U 153 Groupe Hospitalier Pitié-Salpétrière, Paris
c Service de Cardiologie, Centre Hospitalier Pitié-Salpétrière, Paris
e Service de Cardiologie, Hôpital G et R Laënnec, Nantes, France
accepted July 10, 1997
Aims
It is not known whether the apparent normality of echocardiographic examination results, in subjects bearing a mutation for hypertrophic cardiomyopathy but without ultrasonic left ventricular hypertrophy, is due to incomplete phenotypic expression, or inaccurate echocardiographic criteria. The aim of this study was to search for echocardiographic abnormalities in these patients.
Methods and Results
Echocardiography was performed in 100 subjects from two families with a mutation in the ß-MHC (720) or My-BPC (714) genes. We compared genetically affected subjects with an apparently normal left ventricle (thickness <13mm) (20 patients), and non-affected first-degree relatives (61 normal subjects). (1) Patients had a thicker left ventricular wall (9·7±1·4 vs 8·9±1·4mm, P=0·03), a greater indexed mass (107±18 vs 97±17g.m–2, P=0·03), a larger left atrium (27±9 vs 23±10mm3, P=0·09) and lower wall stress (78±11 vs 89±15 103dynes.cm–2, P=0·002); these differences were highly significant after adjustment for height, age and systolic blood pressure either for wall thickness (P=0·073503), mass (P=0·005) or atrial volume (P=0·001), and the ventricular systolic dimension appeared smaller (P=0·01); (2) results remained significant (P<0·01) when a lower cut-off value (
11mm) or only adults (
18 years) were considered; (3) a subanalysis of Family 714 (13 patients, 25 normals matched for sex, age and height) showed the same trends.
Conclusion
In familial hypertrophic cardiomyopathy, genetically affected subjects with an apparently normal heart by echocardiography show slight ultrasonic structural and functional left ventricular modifications, suggesting that the phenotype of the disease is a continuous spectrum from normal structure to typical hypertrophy.
Key Words: Hypertrophic cardiomyopathy • echocardiography • genetics • MyPB-C gene • ß-MHC gene
f1 Correspondence: Pr Michel Komajda, Service de Cardiologie, Groupe Hospitalier Pitié-Salpétrière, 47 Boulevard de l’Hôpital, 75013 Paris, France.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  I. Olivotto, M. S. Maron, C. Autore, J. R. Lesser, L. Rega, G. Casolo, M. De Santis, G. Quarta, S. Nistri, F. Cecchi, et al. Assessment and Significance of Left Ventricular Mass by Cardiovascular Magnetic Resonance in Hypertrophic Cardiomyopathy J. Am. Coll. Cardiol., August 12, 2008; 52(7): 559 - 566. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. J. Maron, J.G. Seidman, and C. E. Seidman Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy J. Am. Coll. Cardiol., December 7, 2004; 44(11): 2125 - 2132. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. J. Maron, W. J. McKenna, G. K. Danielson, L. J. Kappenberger, H. J. Kuhn, C. E. Seidman, P. M. Shah, W. H. Spencer III, P. Spirito, F. J. Ten Cate, et al. American College of Cardiology/European Society of Cardiology Clinical Expert Consensus Document on Hypertrophic Cardiomyopathy: a report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines J. Am. Coll. Cardiol., November 5, 2003; 42(9): 1687 - 1713. [Full Text] [PDF]
|
|
|
|
 |
|
 Writing Committee Members, B. J. Maron, W. J. McKenna, G. K. Danielson, L. J. Kappenberger, H. J. Kuhn, C. E. Seidman, P. M. Shah, W. H. Spencer III, P. Spirito, et al. American College of Cardiology/European Society of Cardiology Clinical Expert Consensus Document on Hypertrophic Cardiomyopathy: A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines Eur. Heart J., November 1, 2003; 24(21): 1965 - 1991. [Full Text] [PDF]
|
|
|
|
|
|
M. J. M. Kofflard, F. J. Ten Cate, C. van der Lee, and R. T. van Domburg Hypertrophic cardiomyopathy in a large community-based population: clinical outcome and identification of risk factors for sudden cardiac death and clinical deterioration J. Am. Coll. Cardiol., March 19, 2003; 41(6): 987 - 993. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. A. Bull and J. Maurer Aprotinin and preservation of myocardial function after ischemia-reperfusion injury Ann. Thorac. Surg., February 1, 2003; 75(2): S735 - 739. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. Arbustini, F. Cecchi, O. Dubourg, M. Frenneaux, A. Keren, U. Khul, B. Maisch, P. Richardson, P. Seferovic, and M. Tendera The need for European Registries in inherited cardiomyopathies Eur. Heart J., December 2, 2002; 23(24): 1972 - 1974. [PDF]
|
|
|
|
 |
|
 B. J. Maron Hypertrophic Cardiomyopathy: A Systematic Review JAMA, March 13, 2002; 287(10): 1308 - 1320. [Abstract] [Full Text] [PDF]
|
|