- Mortality in inherited cardiac diseases: directing care in affected families
- Award date
- 26 November 2014
- Number of pages
- Document type
- PhD thesis
- Faculty of Medicine (AMC-UvA)
Many patients with an inherited cardiac disease face a substantial mortality risk, due to arrhythmias (sudden cardiac death), heart failure or embolic stroke. Knowledge about the mortality of diseases can help doctors and patients to make decisions on (timing of) treatment, screening strategies, preventive life style measurements, and reproductive options. In subsequent chapters in this thesis, the family tree mortality ratio (FMTR) method was applied to estimate the mortality in inherited cardiac diseases more accurately, as this method enables to assess the mortality in times when the disease was not recognized and patients did not receive any treatment for the disease.
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.
- Thesis: 153034_00b Thesis (complete).pdf: Please note that the author's CV and the acknowledgements section are not included
in this file.
Research conducted at: Universiteit van Amsterdam
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