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01-04-2007 | editorial

Structural abnormalities of the left ventricle in hypertrophic cardiomyopathy mutation carriers detectable before the development of hypertrophy

Auteurs: T. Germans, A. A. M. Wilde, C. J. A. van Echteld, O. Kamp, Y. M. Pinto, A. C. van Rossum

Gepubliceerd in: Netherlands Heart Journal | Uitgave 4/2007

Samenvatting

>Hypertrophic cardiomyopathy (HCM) is a common hereditary disease, with a prevalence of 1:500 in the general population. 1,2 HCM is clinically diagnosed by the presence of – often asymmetrical – left ventricular (LV) hypertrophy in the absence of a disease likely to cause this hypertrophy, such as diabetes mellitus, hypertension and/or aortic valve stenosis.

vorige artikel Crossing coronary arteries

Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. Circulation 1995; 92:785-9.

Maron BJ, Spirito P, Roman MJ, Paranicas M, Okin PM, Best LG, et al. Prevalence of hypertrophic cardiomyopathy in a population-based sample of American Indians aged 51 to 77 years (the Strong Heart Study). Am J Cardiol 2004;93:1510-4.

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Geisterfer-Lowrance AA, Christe M, Conner DA, Ingwall JS, Schoen FJ, Seidman CE, et al. A mouse model of familial hypertrophic cardiomyopathy. Science 1996;272:731-4.

Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 2003;107:2227-32.

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Nagueh SF, McFalls J, Meyer D, Hill R, Zoghbi WA, Tam JW, et al. Tissue Doppler imaging predicts the development of hypertrophic cardiomyopathy in subjects with subclinical disease. Circulation 2003;108:395-8.

Germans T, Wilde AA, Dijkmans PA, Chai W, Kamp O, Pinto YM, et al. Structural abnormalities of the inferoseptal left ventricular wall detected by cardiac magnetic resonance imaging in carriers of hypertrophic cardiomyopathy mutations. J Am Coll Cardiol 2006;48:2518-23.

Alders M, Jongbloed R, Deelen W, van den WA, Doevendans PA, Ten Cate FJ, et al. The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. Eur Heart J 2003;24:1848-53.

Jongbloed RJ, Marcelis CL, Doevendans PA, Schmeitz-Mulkens JM, Van Dockum WG, Geraedts JP, et al. Variable clinical manifestation of a novel missense mutation in the alpha-tropomyosin (TPM1) gene in familial hypertrophic cardiomyopathy. J Am Coll Cardiol 2003;41:981-6.

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Carrier L, Knoll R, Vignier N, Keller DI, Bausero P, Prudhon B, et al. Asymmetric septal hypertrophy in heterozygous cMyBP-C null mice. Cardiovasc Res 2004;63:293-304.

Titel: Structural abnormalities of the left ventricle in hypertrophic cardiomyopathy mutation carriers detectable before the development of hypertrophy
Auteurs: T. Germans
A. A. M. Wilde
C. J. A. van Echteld
O. Kamp
Y. M. Pinto
A. C. van Rossum
Publicatiedatum: 01-04-2007
Uitgeverij: Bohn Stafleu van Loghum
Gepubliceerd in: Netherlands Heart Journal / Uitgave 4/2007
Print ISSN: 1568-5888
Elektronisch ISSN: 1876-6250
DOI: https://doi.org/10.1007/BF03085974

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