Hypertrophic Cardiomyopathy: Pathophysiology, Genetics and Invasive Treatment
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.
|Publisher||Erasmus MC: University Medical Center Rotterdam|
|Promotor||Simoons, M.L. (Maarten) , Oostra, B.A. (Ben)|
|Sponsor||Netherlands Heart Foundation|
|Keywords||ardiomyopathy, cardiology, genetics, pathophysiology|
Michels, M.. (2011, January 14). Hypertrophic Cardiomyopathy: Pathophysiology, Genetics and Invasive Treatment. Erasmus MC: University Medical Center Rotterdam. Retrieved from http://hdl.handle.net/1765/22183