Genetics of Cardiovascular Disorders

Cardiovascular disease (CVD) is the leading cause of death and disability in the world. Lifestyle and environmental factors greatly influence the risk for CVD. However, over the years it has become clear that genetic factors also substantially contribute to its pathogenesis. The majority of CVD are thought to result from multifactorial inheritance, involving a complex interplay between multiple susceptibility genes and environmental factors. Despite extensive research efforts, the molecular mechanisms underlying these complex forms of CVD remain poorly understood. In this thesis, we focus on monogenic forms of CVD in an effort to identify new disease genes and pathways, and to further delineate the phenotypes in families with thoracic aortic aneurysms and dissections, left-sided congenital heart disease, and cardiomyopathies. Lessons learned from studying monogenic forms of CVD may also improve our understanding of molecular processes resulting in more common and complex forms of the disease.

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