Causes and consequences of dilated cardiomyopathy: integrating genotype and phenotype to redefine disease diagnostics and therapeutics

Job (Antonius Jozef) Verdonschot

Research output: ThesisDoctoral ThesisInternal

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Abstract

Dilating cardiomyopathy (DCM) is a complex heart condition caused by hereditary and environmental factors. Heredity research through DNA research is an important pillar in the diagnosis of a patient with DCM. Finding a change in DNA can have consequences for the treatment and prognosis of a patient and their family. In this thesis: (1) the clinical effects of genetic changes were mapped to better estimate what a mutation means for a patient; (2) the genetic changes were combined with information from other examinations such as heart films, ultrasound and blood tests to provide a complete picture of DCM and (3) family members of DCM patients with a mutation were examined through ultrasound to better assess the risk of DCM for these family members. This thesis paints a complete picture of a prevalent but complex condition in which heredity plays a major role.
Original languageEnglish
Awarding Institution
  • Maastricht University
Supervisors/Advisors
  • Heymans, Stephane, Supervisor
  • Brunner, Han, Supervisor
  • Krapels, Ingrid, Co-Supervisor
  • Hazebroek, Mark, Co-Supervisor
Award date8 Jan 2021
Place of PublicationMaastricht
Publisher
Print ISBNs9789464190601
DOIs
Publication statusPublished - 2021

Keywords

  • Dilating cardiomyopathy
  • genetic mutations
  • heredity
  • machine learning
  • clinical applicability
  • family members

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