PhD defence F. (Floris) Kauer

Dissertation in short:

Hypertrophic cardiomyopathy (HCM) is regarded as one of the most common inherited cardiac diseases. In a number of population studies the prevalence of HCM is estimated in the general population to be at least 1 in 500. HCM is inherited with an autosomal dominant  Mendelian pattern, variable expressivity, and age-related (and incomplete) penetrance. Clinical diagnosis of HCM requires confirmation of phenotypic expression, that is an unexplained increase in left ventricular (LV) wall thickness (≥15 mm in adults) associated with a nondilated LV chamber with cardiac imaging (usually echocardiography). Phenotype positive patients may show different patterns of LV hypertrophy: reverse septal curvature, sigmoidal and apical forms have been described. Relatives identified with pathogenic mutations (gene carriers) but without evidence of the disease phenotype comprise a new HCM subgroup, designated as genotype positive-phenotype negative individuals. The risk of eventually developing LV hypertrophy in this group is currently uncertain. In this thesis we investigated the value of speckle tracking echocardiographically (STE)-derived global and regional LV rotation and strain in HCM mutation gene carriers and patients, both in systole and diastole.