Genetik der familiären hypertrophen Kardiomyopathie

Hypertrophic cardiomyopathy is characterised by left and/or right ventricular hypertrophy, which is usually asymmetric and involves the interventricular septum. Morphological changes include myocyte hypertrophy and disarray With fibrosis. Arrhythmias and sudden cardiac death are common. Molecular genetic studies have identified eleven affected genes in pure familial hypertrophic cardiomyopathy that all code for sarcomeric proteins. One gene was identified to be responsible for hypertrophic cardiomyopathy in combination With the familial Wolff-Parkinson-White-Syndrome. Besides the locus heterogeneity, there is a wide allelic heterogeneity. Mutations With increased sudden cardiac death risk have been identified in several genes. Further genotypephenotype-correlation studies in large and numerous families will provide more information about the impact of specific mutations on the clinical course and the prognosis of familial hypertrophic cardiomyopathy.