Hypertrophic cardiomyopathy (HCM) is the most common inheritable cardiac disorder
with a phenotypic prevalence of 1:500. It is defined by the presence of left ventricular
hypertrophy (LVH) in the absence of loading conditions (hypertension, valve disease)
sufficient to cause the observed abnormality. Hundreds of mutations scattered among at
least 25 putative HCM susceptibility genes encoding various sarcomere, Z-disk, calciumhandling,
and mitochondrial proteins are known to cause HCM and are found in up to
60% of cases. Besides the genetic heterogeneity, HCM is also characterized by phenotypic
heterogeneity; ranging from negligible to extreme hypertrophy, absent or severe
left ventricular outflow tract obstruction, normal longevity or premature sudden cardiac
death (SCD), even in patients carrying the same pathogenic HCM mutation.
Since the introduction of HCM as a clinical entity in 1958, extensive research has
been performed regarding diagnosis, prognosis, therapy and genetics. However, correct
diagnosis and optimal management of HCM patients and their asymptomatic affected
family members still offers difficulties to the physician.
This thesis describes the findings of HCM patients followed at the ErasmusMC in
Rotterdam for years. It is directed towards the different pheno- and genotypical aspects
of this disease. Furthermore results of basic sarcomere investigations, pathophysiologic
characteristics to explain clinical findings, therapeutic measures both with and without
surgery and natural history are described.
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