Specific issues in clinical genetics and genetic counselling practices related to inherited cardiovascular conditions

Abstract

The genetically determined cardiomyopathies and arrhythmias are usually inherited as autosomal dominant traits with a wide range of inter- and intrafamilial clinical variability concerning age at onset, penetrance, degree of symptoms and risk of cardiac death. In addition they are all characterized by extensive genetic and allelic heterogeneity. It has become obvious that molecular testing in clinical practice has an important impact on the management of patients and their families. With the introduction of high throughput sequencing (HTS) platforms, which allow simultaneous screening of a large number of genes, the time and the cost of DNA sequencing has been greatly reduced. Molecular testing of inherited cardiac disorders is now performed routinely in diagnostic genetics laboratories.