Hypertrofická kardiomyopatie a příbuzná témata – Veselka Josef (2011)

Hypertrophic cardiomyopathy (HCM) has been known for 50 years. The development of knowledge about this hereditary disease is very interesting, and many findings have significance that transcends the boundaries of a single disease. From the original view that the thickening of the heart in HCM is essentially a tumor, our understanding has shifted with the discovery of its hereditary nature based on mutations in sarcomeric proteins. The advancement of molecular biology and imaging methods has subsequently completely changed the perspective on the pathogenesis and pathophysiology of HCM. It appears that HCM, as we understand it today, is more of a heterogeneous conglomerate of individual genetically conditioned diseases rather than a simply definable condition, as was previously assumed. The heterogeneity of both genotype and phenotype in HCM is so significant that in clinical practice it can present as a disease without left ventricular hypertrophy or, conversely, with extreme hypertrophy reaching up to 60 mm in left ventricular wall thickness. The monograph summarizes findings on hypertrophic cardiomyopathy and some clinically or genetically related diseases published up to mid-2006. It is not just a mere enumeration of basic and the latest information on HCM and related diseases, but primarily a source of practical information that can be immediately applied in...