The etiology of cardiovascular disorders is complex and involves interaction of genetic, environmental, metabolic, and physiological factors. A small proportion of all cardiovascular cases results from rare single gene defects with strong effects on the phenotype. Biomedical research has been extremely successful in the genetic characterization of uncommon, monogenic cardiovascular disorders, thereby providing fundamental insights into the pathogenesis of cardiovascular disease (CVD). In 1985, Goldstein and Brown have been awarded the Nobel Prize for medicine for elucidating the molecular basis of familial hypercholesterolemia (FH).

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Financial support for publication of this thesis was kindly provided by: Andro Medical Research BV, Novartis Pharma BV, Servier Nederland Farma BV, Merck Sharp & Dohme BV, Pfizer, Roche Nederland BV, Novo Nordisk Farma BV, GlaxoSmithKline, Sanofi-Aventis Nederland BV, AstraZeneca BV, Boehringer Ingelheim BV, Procter & Gamble Pharmaceuticals Nederland BV, Menarini Farma Nederland, Schering-Plough BV.
H.A.P. Pols (Huib) , J.J.P. Kastelein (John)
Erasmus University Rotterdam
Erasmus MC: University Medical Center Rotterdam