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

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.