Inherited cardiomyopathies and phenocopies

Over the past few decades, there has been notable progress in knowledge of the genetic underpinnings of cardiomyopathies with important implications for patient care. Twenty-five years ago we started to recognize the genes; nowadays dozens of genes have been associated with cardiomyopathies. Finding a causal mutation in a patient allows identification of relatives at risk of cardiomyopathy and enables presymptomatic assessment of the risk on associated SCD and prevention of SCD. Most genes are associated with different cardiomyopathy subtypes, but genes and specific mutations can be unique for a certain cardiomyopathy or have specific phenotypic characteristics. The large variability in disease penetrance, in disease symptoms and prognosis, and in some families even in the type of cardiomyopathy makes genetic counseling and clinical care, though challenging, of great importance. The aim of this thesis was to contribute to our understanding of the genotype-phenotype relationships in cardiomyopathies.