Familial hypertrophic cardiomyopathy. Cardiac ultrasonic abnormalities in genetically affected subjects without echocardiographic evidence of left ventricular hypertrophy
| Autor: | A A, Hagège, O, Dubourg, M, Desnos, R, Mirochnik, G, Isnard, G, Bonne, L, Carrier, P, Guicheney, J B, Bouhour, K, Schwartz, M, Komajda |
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| Rok vydání: | 1998 |
| Předmět: |
Adult
Male medicine.medical_specialty Heart disease Adolescent Heart Ventricles Left ventricular hypertrophy Muscle hypertrophy Internal medicine medicine Humans Child Normal heart Aged Ultrasonography Aged 80 and over Familial Hypertrophic Cardiomyopathy Analysis of Variance business.industry Hypertrophic cardiomyopathy Cardiomyopathy Hypertrophic Middle Aged medicine.disease Blood pressure medicine.anatomical_structure Phenotype Ventricle Mutation Cardiology Female Hypertrophy Left Ventricular Cardiology and Cardiovascular Medicine business |
| Zdroj: | European heart journal. 19(3) |
| ISSN: | 0195-668X |
| Popis: | 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.Echocardiography was performed in 100 subjects from two families with a mutation in the beta-MHC (720) or My-BPC (714) genes. We compared genetically affected subjects with an apparently normal left ventricle (thickness13 mm) (20 patients), and nonaffected first-degree relatives (61 normal subjects). (1) Patients had a thicker left ventricular wall (9.7 +/- 1.4 vs 8.9 +/- 1.4 mm, P = 0.03), a greater indexed mass (107 +/- 18 vs 97 +/- 17 g. m-2, P = 0.03), a larger left atrium (27 +/- 9 vs 23 +/- 10 mm3, P = 0.09) and lower wall stress (78 +/- 11 vs 89 +/- 15 10(3) dynes. cm-2, P = 0.002); these differences were highly significant after adjustment for height, age and systolic blood pressure either for wall thickness (P = 0.000003), mass (P = 0.005) or atrial volume (P = 0.001), and the ventricular systolic dimension appeared smaller (P = 0.01); (2) results remained significant (P0.01) when a lower cut-off value (or = 11 mm) or only adults (or = 18 years) were considered; (3) a subanalysis of Family 714 (13 patients, 25 normals matched for sex, age and height) showed the same trends.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. |
| Databáze: | OpenAIRE |
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