In this thesis, the mortality risk of HCM, six inherited arrhythmia syndromes and lamin A/C (LMNA) mutations carriers is presented. The mortality risk was assessed, with the FTMR method in large 200-year multigenerational pedigrees and also in small kindreds of contemporary patients referred to our outpatient clinics. Age windows of high mortality risk were identified in an unselected and untreated population, which can guide screening and treatment in these families. Furthermore, the effect of ascertainment bias on mortality in patients with an inherited (cardiac) diseases is described. In the last chapter, a retrospective overview of 15 years prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) for inherited cardiac diseases in the Netherlands is presented.
Research conducted at: Universiteit van Amsterdam
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